SREBF2 — 227 ClinVar variants
All ClinVar germline SREBF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →
34 Benign · 1 Benign/Likely benign · 18 Likely benign · 174 Uncertain significance
Full SREBF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 166
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 143
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SREBF2 p.Ala1006Thr Uncertain significance Single submitter
- SREBF2 p.Ala1073Thr Uncertain significance Single submitter
- SREBF2 p.Ala1081Thr Uncertain significance Single submitter
- SREBF2 p.Ala1103Val Uncertain significance Single submitter
- SREBF2 p.Ala1140Thr Uncertain significance Single submitter
- SREBF2 p.Ala226Ser Uncertain significance Single submitter
- SREBF2 p.Ala268Thr Uncertain significance Single submitter
- SREBF2 p.Ala276Thr Uncertain significance Single submitter
- SREBF2 p.Ala397Glu Uncertain significance Single submitter
- SREBF2 p.Ala506Val Uncertain significance Single submitter
- SREBF2 p.Ala594Val Uncertain significance Single submitter
- SREBF2 p.Ala616Ser Uncertain significance Single submitter
- SREBF2 p.Ala867Thr Uncertain significance Single submitter
- SREBF2 p.Ala985Val Uncertain significance Single submitter
- SREBF2 p.Ala996Val Uncertain significance Single submitter
- SREBF2 p.Arg1013Gln Uncertain significance Single submitter
- SREBF2 p.Arg1061Cys Uncertain significance Single submitter
- SREBF2 p.Arg1089Cys Uncertain significance Single submitter
- SREBF2 p.Arg1119Trp Uncertain significance Single submitter
- SREBF2 p.Arg331Lys Uncertain significance Single submitter
- SREBF2 p.Arg332Gln Uncertain significance Single submitter
- SREBF2 p.Arg565Gln Uncertain significance Single submitter
- SREBF2 p.Arg625His Uncertain significance Single submitter
- SREBF2 p.Arg646Gln Uncertain significance Single submitter
- SREBF2 p.Arg646Trp Uncertain significance Single submitter
- SREBF2 p.Arg672Gln Uncertain significance Single submitter
- SREBF2 p.Arg742Gln Uncertain significance Single submitter
- SREBF2 p.Arg773Trp Uncertain significance Single submitter
- SREBF2 p.Arg790Gly Uncertain significance Single submitter
- SREBF2 p.Arg875Gln Uncertain significance Single submitter
- SREBF2 p.Arg875Trp Uncertain significance Single submitter
- SREBF2 p.Arg896His Uncertain significance Single submitter
- SREBF2 p.Arg904Cys Uncertain significance Single submitter
- SREBF2 p.Asn271His Uncertain significance Single submitter
- SREBF2 p.Asn596Ser Uncertain significance Single submitter
- SREBF2 p.Asn791Ser Uncertain significance Single submitter
- SREBF2 p.Asn806Lys Uncertain significance Single submitter
- SREBF2 p.Asp408Asn Uncertain significance Single submitter
- SREBF2 p.Asp414Asn Uncertain significance Single submitter
- SREBF2 p.Asp690Asn Uncertain significance Single submitter
- SREBF2 p.Cys485Tyr Uncertain significance Single submitter
- SREBF2 p.Cys644Tyr Uncertain significance Single submitter
- SREBF2 p.Gln108Glu Uncertain significance Single submitter
- SREBF2 p.Gln182Arg Uncertain significance Single submitter
- SREBF2 p.Gln229Arg Uncertain significance Single submitter
- SREBF2 p.Gln441Arg Uncertain significance Single submitter
- SREBF2 p.Gln511His Uncertain significance Single submitter
- SREBF2 p.Glu1079Val Uncertain significance Single submitter
- SREBF2 p.Glu352Lys Uncertain significance Single submitter
- SREBF2 p.Glu750Lys Uncertain significance Single submitter
- SREBF2 p.Glu903Gly Uncertain significance Single submitter
- SREBF2 p.Gly1133Ser Uncertain significance Single submitter
- SREBF2 p.Gly410Ser Uncertain significance Single submitter
- SREBF2 p.Gly518Val Uncertain significance Single submitter
- SREBF2 p.Gly5Arg Uncertain significance Single submitter
- SREBF2 p.Gly723Val Uncertain significance Single submitter
- SREBF2 p.Gly852Arg Uncertain significance Single submitter
- SREBF2 p.His1056Asn Uncertain significance Single submitter
- SREBF2 p.His335Arg Uncertain significance Single submitter
- SREBF2 p.His567Arg Uncertain significance Single submitter
- SREBF2 p.His677Tyr Uncertain significance Single submitter
- SREBF2 p.His800Gln Uncertain significance Single submitter
- SREBF2 p.His898Tyr Uncertain significance Single submitter
- SREBF2 p.Ile421Met Uncertain significance Single submitter
- SREBF2 p.Ile678Val Uncertain significance Single submitter
- SREBF2 p.Ile873Thr Uncertain significance Single submitter
- SREBF2 p.Leu1058Pro Uncertain significance Single submitter
- SREBF2 p.Leu220Val Uncertain significance Single submitter
- SREBF2 p.Leu404Val Uncertain significance Single submitter
- SREBF2 p.Leu412Pro Uncertain significance Single submitter
- SREBF2 p.Leu50Pro Uncertain significance Single submitter
- SREBF2 p.Leu540Val Uncertain significance Single submitter
- SREBF2 p.Leu615Met Uncertain significance Single submitter
- SREBF2 p.Lys1031Arg Uncertain significance Single submitter
- SREBF2 p.Lys115Arg Uncertain significance Single submitter
- SREBF2 p.Lys115Glu Uncertain significance Single submitter
- SREBF2 p.Lys378Arg Uncertain significance Single submitter
- SREBF2 p.Lys725Gln Uncertain significance Single submitter
- SREBF2 p.Lys725Thr Uncertain significance Single submitter
- SREBF2 p.Lys768Arg Uncertain significance Single submitter
- SREBF2 p.Lys805Arg Uncertain significance Single submitter
- SREBF2 p.Met266Thr Uncertain significance Single submitter
- SREBF2 p.Met306Ile Uncertain significance Single submitter
- SREBF2 p.Met306Thr Uncertain significance Single submitter
- SREBF2 p.Met306Val Uncertain significance Single submitter
- SREBF2 p.Met358Leu Uncertain significance Single submitter
- SREBF2 p.Met854Ile Uncertain significance Single submitter
- SREBF2 p.Pro125Ser Uncertain significance Single submitter
- SREBF2 p.Pro137Ser Uncertain significance Single submitter
- SREBF2 p.Pro264Ala Uncertain significance Single submitter
- SREBF2 p.Pro264Ser Uncertain significance Single submitter
- SREBF2 p.Pro326Arg Uncertain significance Single submitter
- SREBF2 p.Pro513Arg Uncertain significance Single submitter
- SREBF2 p.Pro513Leu Uncertain significance Single submitter
- SREBF2 p.Pro710Leu Uncertain significance Single submitter
- SREBF2 p.Pro857Gln Uncertain significance Single submitter
- SREBF2 p.Pro870Arg Uncertain significance Single submitter
- SREBF2 p.Pro870Leu Uncertain significance Single submitter
- SREBF2 p.Ser103Leu Uncertain significance Single submitter
- SREBF2 p.Ser1121Phe Uncertain significance Single submitter
- SREBF2 p.Ser177Gly Uncertain significance Single submitter
- SREBF2 p.Ser440Phe Uncertain significance Single submitter
- SREBF2 p.Ser4Gly Uncertain significance Single submitter
- SREBF2 p.Ser57Ile Uncertain significance Single submitter
- SREBF2 p.Ser611Ala Uncertain significance Single submitter
- SREBF2 p.Ser611Cys Uncertain significance Single submitter
- SREBF2 p.Ser774Arg Uncertain significance Single submitter
- SREBF2 p.Ser774Asn Uncertain significance Single submitter
- SREBF2 p.Ser784Thr Uncertain significance Single submitter
- SREBF2 p.Ser835Phe Uncertain significance Single submitter
- SREBF2 p.Ser859Phe Uncertain significance Single submitter
- SREBF2 p.Ser866Phe Uncertain significance Single submitter
- SREBF2 p.Ser897Phe Uncertain significance Single submitter
- SREBF2 p.Ser954Asn Uncertain significance Single submitter
- SREBF2 p.Thr149Met Uncertain significance Single submitter
- SREBF2 p.Thr153Met Uncertain significance Single submitter
- SREBF2 p.Thr155Ala Uncertain significance Single submitter
- SREBF2 p.Thr159Ile Uncertain significance Single submitter
- SREBF2 p.Thr176Ala Uncertain significance Single submitter
- SREBF2 p.Thr198Ala Uncertain significance Single submitter
- SREBF2 p.Thr219Lys Uncertain significance Single submitter
- SREBF2 p.Thr230Ala Uncertain significance Single submitter
- SREBF2 p.Thr900Ser Uncertain significance Single submitter
- SREBF2 p.Thr93Asn Uncertain significance Single submitter
- SREBF2 p.Tyr1001Ser Uncertain significance Single submitter
- SREBF2 p.Tyr1029His Uncertain significance Single submitter
- SREBF2 p.Tyr447Cys Uncertain significance Single submitter
- SREBF2 p.Val1071Met Uncertain significance Single submitter
- SREBF2 p.Val1104Leu Uncertain significance Single submitter
- SREBF2 p.Val1116Met Uncertain significance Single submitter
- SREBF2 p.Val1130Ile Uncertain significance Single submitter
- SREBF2 p.Val116Leu Uncertain significance Single submitter
- SREBF2 p.Val228Met Uncertain significance Single submitter
- SREBF2 p.Val316Ala Uncertain significance Single submitter
- SREBF2 p.Val369Ile Uncertain significance Single submitter
- SREBF2 p.Val39Met Uncertain significance Single submitter
- SREBF2 p.Val413Leu Uncertain significance Single submitter
- SREBF2 p.Val486Ile Uncertain significance Single submitter
- SREBF2 p.Val552Ile Uncertain significance Single submitter
- SREBF2 p.Val563Leu Uncertain significance Single submitter
- SREBF2 p.Val851Gly Uncertain significance Single submitter
-
SREBF2 p.Ala923Thr
Uncertain significance
No assertion criteria
SREBF2-related disorder
-
SREBF2 p.Arg519His
Uncertain significance
No assertion criteria
SREBF2-related disorder
Predictors split 23
The independent predictors disagree with each other — read with care.
- SREBF2 p.Ala704Val Uncertain significance Single submitter
- SREBF2 p.Arg1013Trp Uncertain significance Single submitter
- SREBF2 p.Arg1019Cys Uncertain significance Single submitter
- SREBF2 p.Arg1049Cys Uncertain significance Single submitter
- SREBF2 p.Arg1061Pro Uncertain significance Single submitter
- SREBF2 p.Arg1080Trp Uncertain significance Single submitter
- SREBF2 p.Arg1089Ser Uncertain significance Single submitter
- SREBF2 p.Arg1102Gln Uncertain significance Single submitter
- SREBF2 p.Arg1102Leu Uncertain significance Single submitter
- SREBF2 p.Arg612Cys Uncertain significance Single submitter
- SREBF2 p.Arg635Cys Uncertain significance Single submitter
- SREBF2 p.Asp437Glu Uncertain significance Single submitter
- SREBF2 p.Glu1036Lys Uncertain significance Single submitter
- SREBF2 p.Glu452Lys Uncertain significance Single submitter
- SREBF2 p.Gly1016Asp Uncertain significance Single submitter
- SREBF2 p.Gly20Arg Uncertain significance Single submitter
- SREBF2 p.Gly218Asp Uncertain significance Single submitter
- SREBF2 p.Gly293Asp Uncertain significance Single submitter
- SREBF2 p.Pro764Thr Uncertain significance Single submitter
- SREBF2 p.Ser1017Asn Uncertain significance Single submitter
- SREBF2 p.Ser103Trp Uncertain significance Single submitter
- SREBF2 p.Ser72Arg Uncertain significance Single submitter
- SREBF2 p.Ser955Asn Uncertain significance Single submitter
All SREBF2 variants
Benign 34
- c.1579+37G>A Multiple submitters
- c.1580-104A>G Multiple submitters
- c.2377+28T>C Multiple submitters
- c.2496-133G>A Multiple submitters
- c.2496-171C>T Multiple submitters
- c.2739-155G>C Multiple submitters
- c.3205+36A>G Multiple submitters
- c.3206-10C>T Multiple submitters
- c.868-174C>T Multiple submitters
- c.*48T>C Multiple submitters
- c.*84A>G Multiple submitters
- p.Ala233= Multiple submitters
- p.Ala694= Multiple submitters
- p.Arg1059= Multiple submitters
- p.Arg860Ser Multiple submitters
- p.Gly595Ala Multiple submitters
- p.His1035= Multiple submitters
- p.Leu556= Multiple submitters
- p.Pro122= Multiple submitters
- p.Val623Met Multiple submitters
- c.1761+160G>A Single submitter
- c.2208+134T>G Single submitter
- c.2209-127T>G Single submitter
- c.2377+10C>G Single submitter
- c.2377+177T>C Single submitter
- c.2377+211G>A Single submitter
- c.2495+181C>G Single submitter
- c.2605+113A>G Single submitter
- c.2739-192G>A Single submitter
- c.2907+201T>C Single submitter
- c.3205+155T>C Single submitter
- c.867+157C>T Single submitter
- p.Ser67= Single submitter
- p.Arg1080Gln No assertion criteria SREBF2-related disorder
Benign/Likely benign 1
- p.Arg371Lys Multiple submitters
Likely benign 18
- c.3206-10C>A Single submitter
- p.Asn415Ser Single submitter
- p.Asp361= Single submitter
- p.Asp891= Single submitter
- p.Ile873Val Single submitter
- p.Ile905Val Single submitter
- p.Val883Met Single submitter
- c.2606-7C>T No assertion criteria SREBF2-related disorder
- c.*6A>G No assertion criteria SREBF2-related disorder
- p.Ala687Thr No assertion criteria SREBF2-related disorder
- p.Ala720= No assertion criteria SREBF2-related disorder
- p.Asn622= No assertion criteria SREBF2-related disorder
- p.His507= No assertion criteria SREBF2-related disorder
- p.Leu807= No assertion criteria SREBF2-related disorder
- p.Pro240= No assertion criteria SREBF2-related disorder
- p.Ser568= No assertion criteria SREBF2-related disorder
- p.Thr1063= No assertion criteria SREBF2-related disorder
- p.Val902Leu No assertion criteria SREBF2-related disorder
Uncertain significance 174
- p.Ala1006Thr Single submitter ⚠
- p.Ala1073Thr Single submitter ⚠
- p.Ala1081Thr Single submitter ⚠
- p.Ala1103Val Single submitter ⚠
- p.Ala1140Thr Single submitter ⚠
- p.Ala226Ser Single submitter ⚠
- p.Ala268Thr Single submitter ⚠
- p.Ala276Thr Single submitter ⚠
- p.Ala397Glu Single submitter ⚠
- p.Ala506Val Single submitter ⚠
- p.Ala594Val Single submitter ⚠
- p.Ala616Ser Single submitter ⚠
- p.Ala704Val Single submitter ⚠
- p.Ala867Thr Single submitter ⚠
- p.Ala985Val Single submitter ⚠
- p.Ala996Val Single submitter ⚠
- p.Arg1013Gln Single submitter ⚠
- p.Arg1013Trp Single submitter ⚠
- p.Arg1019Cys Single submitter ⚠
- p.Arg1049Cys Single submitter ⚠
- p.Arg1061Cys Single submitter ⚠
- p.Arg1061Pro Single submitter ⚠
- p.Arg1080Trp Single submitter ⚠
- p.Arg1089Cys Single submitter ⚠
- p.Arg1089Ser Single submitter ⚠
- p.Arg1102Gln Single submitter ⚠
- p.Arg1102Leu Single submitter ⚠
- p.Arg1111Cys Single submitter
- p.Arg1119Trp Single submitter ⚠
- p.Arg331Lys Single submitter ⚠
- p.Arg332Gln Single submitter ⚠
- p.Arg388His Single submitter
- p.Arg565Gln Single submitter ⚠
- p.Arg612Cys Single submitter ⚠
- p.Arg625His Single submitter ⚠
- p.Arg635Cys Single submitter ⚠
- p.Arg646Gln Single submitter ⚠
- p.Arg646Trp Single submitter ⚠
- p.Arg664Leu Single submitter
- p.Arg672Gln Single submitter ⚠
- p.Arg742Gln Single submitter ⚠
- p.Arg773Trp Single submitter ⚠
- p.Arg790Gly Single submitter ⚠
- p.Arg875Gln Single submitter ⚠
- p.Arg875Trp Single submitter ⚠
- p.Arg896His Single submitter ⚠
- p.Arg904Cys Single submitter ⚠
- p.Asn271His Single submitter ⚠
- p.Asn596Ser Single submitter ⚠
- p.Asn791Ser Single submitter ⚠
- p.Asn806Lys Single submitter ⚠
- p.Asp408Asn Single submitter ⚠
- p.Asp414Asn Single submitter ⚠
- p.Asp437Glu Single submitter ⚠
- p.Asp690Asn Single submitter ⚠
- p.Cys485Tyr Single submitter ⚠
- p.Cys644Tyr Single submitter ⚠
- p.Gln108Glu Single submitter ⚠
- p.Gln182Arg Single submitter ⚠
- p.Gln229Arg Single submitter ⚠
- p.Gln441Arg Single submitter ⚠
- p.Gln511His Single submitter ⚠
- p.Glu1036Lys Single submitter ⚠
- p.Glu1079Val Single submitter ⚠
- p.Glu352Lys Single submitter ⚠
- p.Glu452Lys Single submitter ⚠
- p.Glu750Lys Single submitter ⚠
- p.Glu903Gly Single submitter ⚠
- p.Gly1016Asp Single submitter ⚠
- p.Gly1133Ser Single submitter ⚠
- p.Gly20Arg Single submitter ⚠
- p.Gly218Asp Single submitter ⚠
- p.Gly293Asp Single submitter ⚠
- p.Gly410Ser Single submitter ⚠
- p.Gly518Val Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.Gly723Val Single submitter ⚠
- p.Gly852Arg Single submitter ⚠
- p.His1056Asn Single submitter ⚠
- p.His335Arg Single submitter ⚠
- p.His567Arg Single submitter ⚠
- p.His677Tyr Single submitter ⚠
- p.His800Gln Single submitter ⚠
- p.His898Tyr Single submitter ⚠
- p.Ile421Met Single submitter ⚠
- p.Ile678Val Single submitter ⚠
- p.Ile873Thr Single submitter ⚠
- p.Leu1058Pro Single submitter ⚠
- p.Leu220Val Single submitter ⚠
- p.Leu255Phe Single submitter
- p.Leu404Val Single submitter ⚠
- p.Leu412Pro Single submitter ⚠
- p.Leu50Pro Single submitter ⚠
- p.Leu540Val Single submitter ⚠
- p.Leu615Met Single submitter ⚠
- p.Lys1031Arg Single submitter ⚠
- p.Lys115Arg Single submitter ⚠
- p.Lys115Glu Single submitter ⚠
- p.Lys378Arg Single submitter ⚠
- p.Lys725Gln Single submitter ⚠
- p.Lys725Thr Single submitter ⚠
- p.Lys768Arg Single submitter ⚠
- p.Lys805Arg Single submitter ⚠
- p.Met266Thr Single submitter ⚠
- p.Met306Ile Single submitter ⚠
- p.Met306Thr Single submitter ⚠
- p.Met306Val Single submitter ⚠
- p.Met358Leu Single submitter ⚠
- p.Met854Ile Single submitter ⚠
- p.Pro125Ser Single submitter ⚠
- p.Pro137Ser Single submitter ⚠
- p.Pro264Ala Single submitter ⚠
- p.Pro264Ser Single submitter ⚠
- p.Pro326Arg Single submitter ⚠
- p.Pro513Arg Single submitter ⚠
- p.Pro513Leu Single submitter ⚠
- p.Pro710Leu Single submitter ⚠
- p.Pro764Thr Single submitter ⚠
- p.Pro857Gln Single submitter ⚠
- p.Pro870Arg Single submitter ⚠
- p.Pro870Leu Single submitter ⚠
- p.Ser1017Asn Single submitter ⚠
- p.Ser103Leu Single submitter ⚠
- p.Ser103Trp Single submitter ⚠
- p.Ser1121Phe Single submitter ⚠
- p.Ser177Gly Single submitter ⚠
- p.Ser440Phe Single submitter ⚠
- p.Ser4Gly Single submitter ⚠
- p.Ser57Ile Single submitter ⚠
- p.Ser611Ala Single submitter ⚠
- p.Ser611Cys Single submitter ⚠
- p.Ser72Arg Single submitter ⚠
- p.Ser774Arg Single submitter ⚠
- p.Ser774Asn Single submitter ⚠
- p.Ser784Thr Single submitter ⚠
- p.Ser835Phe Single submitter ⚠
- p.Ser859Phe Single submitter ⚠
- p.Ser866Phe Single submitter ⚠
- p.Ser897Phe Single submitter ⚠
- p.Ser954Asn Single submitter ⚠
- p.Ser955Asn Single submitter ⚠
- p.Thr149Met Single submitter ⚠
- p.Thr153Met Single submitter ⚠
- p.Thr155Ala Single submitter ⚠
- p.Thr159Ile Single submitter ⚠
- p.Thr176Ala Single submitter ⚠
- p.Thr198Ala Single submitter ⚠
- p.Thr219Lys Single submitter ⚠
- p.Thr230Ala Single submitter ⚠
- p.Thr726Pro Single submitter
- p.Thr900Ser Single submitter ⚠
- p.Thr93Asn Single submitter ⚠
- p.Thr984Ala Single submitter
- p.Tyr1001Ser Single submitter ⚠
- p.Tyr1029His Single submitter ⚠
- p.Tyr447Cys Single submitter ⚠
- p.Val1039Met Single submitter
- p.Val1071Met Single submitter ⚠
- p.Val1104Leu Single submitter ⚠
- p.Val1116Met Single submitter ⚠
- p.Val1130Ile Single submitter ⚠
- p.Val116Leu Single submitter ⚠
- p.Val228Met Single submitter ⚠
- p.Val316Ala Single submitter ⚠
- p.Val369Ile Single submitter ⚠
- p.Val39Met Single submitter ⚠
- p.Val413Leu Single submitter ⚠
- p.Val486Ile Single submitter ⚠
- p.Val552Ile Single submitter ⚠
- p.Val563Leu Single submitter ⚠
- p.Val851Gly Single submitter ⚠
- p.Ala923Thr No assertion criteria SREBF2-related disorder ⚠
- p.Arg519His No assertion criteria SREBF2-related disorder ⚠
- p.Asp1118fs No assertion criteria Hypercholesterolemia