BFSP2 — 154 ClinVar variants
All ClinVar germline BFSP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
3 Pathogenic · 7 Conflicting · 31 Benign · 3 Benign/Likely benign · 20 Likely benign · 90 Uncertain significance
Full BFSP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
BFSP2 p.Ala124Thr
Conflicting
Single submitter
cataract 12 multiple types
-
BFSP2 p.Ala372Val
Conflicting
Single submitter
cataract 12 multiple types
- BFSP2 p.Arg76Gln Conflicting Single submitter
-
BFSP2 p.Gly55Arg
Conflicting
Single submitter
cataract 12 multiple types
-
BFSP2 p.Ser34Pro
Conflicting
Single submitter
cataract 12 multiple types
Predictors lean, ClinVar uncertain 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BFSP2 p.Ala389Thr
Uncertain significance
Multiple submitters
cataract 12 multiple types
-
BFSP2 p.Arg173Gln
Uncertain significance
Multiple submitters
cataract 12 multiple types
-
BFSP2 p.Arg4Lys
Uncertain significance
Multiple submitters
cataract 12 multiple types
- BFSP2 p.Arg52Gln Uncertain significance Multiple submitters
-
BFSP2 p.Leu234Pro
Uncertain significance
Multiple submitters
cataract 12 multiple types
-
BFSP2 p.Thr44Ala
Uncertain significance
Multiple submitters
cataract 12 multiple types
-
BFSP2 p.Ala300Val
Uncertain significance
Single submitter
cataract 12 multiple types
- BFSP2 p.Ala316Asp Uncertain significance Single submitter
-
BFSP2 p.Arg154Leu
Uncertain significance
Single submitter
cataract 12 multiple types
-
BFSP2 p.Arg394His
Uncertain significance
Single submitter
cataract 12 multiple types
- BFSP2 p.Arg411Gly Uncertain significance Single submitter
- BFSP2 p.Arg75His Uncertain significance Single submitter
- BFSP2 p.Arg89Gln Uncertain significance Single submitter
- BFSP2 p.Asn149Asp Uncertain significance Single submitter
- BFSP2 p.Asn347Ser Uncertain significance Single submitter
- BFSP2 p.Asp282Gly Uncertain significance Single submitter
- BFSP2 p.Asp357Glu Uncertain significance Single submitter
-
BFSP2 p.Asp9Glu
Uncertain significance
Single submitter
cataract 12 multiple types
- BFSP2 p.Glu37Val Uncertain significance Single submitter
- BFSP2 p.Gly184Arg Uncertain significance Single submitter
- BFSP2 p.His123Arg Uncertain significance Single submitter
- BFSP2 p.Ile213Val Uncertain significance Single submitter
- BFSP2 p.Ile264Val Uncertain significance Single submitter
- BFSP2 p.Ile271Val Uncertain significance Single submitter
- BFSP2 p.Ile66Val Uncertain significance Single submitter
-
BFSP2 p.Leu294Phe
Uncertain significance
Single submitter
cataract 12 multiple types
- BFSP2 p.Leu317Val Uncertain significance Single submitter
-
BFSP2 p.Lys353Arg
Uncertain significance
Single submitter
cataract 12 multiple types
- BFSP2 p.Met175Val Uncertain significance Single submitter
- BFSP2 p.Ser236Cys Uncertain significance Single submitter
- BFSP2 p.Ser325Ala Uncertain significance Single submitter
- BFSP2 p.Ser325Leu Uncertain significance Single submitter
-
BFSP2 p.Ser325Pro
Uncertain significance
Single submitter
cataract 12 multiple types
-
BFSP2 p.Ser414Gly
Uncertain significance
Single submitter
cataract 12 multiple types
- BFSP2 p.Val283Ile Uncertain significance Single submitter
- BFSP2 p.Val58Ile Uncertain significance Single submitter
- BFSP2 p.Lys400Met Uncertain significance No assertion criteria
Predictors split 43
The independent predictors disagree with each other — read with care.
-
BFSP2 p.Arg72His
Uncertain significance
Multiple submitters
cataract 12 multiple types
-
BFSP2 p.Glu141Ala
Uncertain significance
Multiple submitters
cataract 12 multiple types
- BFSP2 p.Glu228Gly Uncertain significance Multiple submitters
-
BFSP2 p.Glu289Asp
Uncertain significance
Multiple submitters
cataract 12 multiple types
-
BFSP2 p.Leu153Gln
Uncertain significance
Multiple submitters
cataract 12 multiple types
-
BFSP2 p.Leu223Val
Benign/Likely benign
Multiple submitters
cataract 12 multiple types
-
BFSP2 p.Val367Gly
Uncertain significance
Multiple submitters
cataract 12 multiple types
- BFSP2 p.Ala290Gly Uncertain significance Single submitter
- BFSP2 p.Ala403Thr Uncertain significance Single submitter
-
BFSP2 p.Arg173Trp
Conflicting
Single submitter
cataract 12 multiple types
-
BFSP2 p.Arg287Trp
Uncertain significance
Single submitter
cataract 12 multiple types
-
BFSP2 p.Arg318Ser
Likely benign
Single submitter
cataract 12 multiple types
- BFSP2 p.Arg31Trp Uncertain significance Single submitter
- BFSP2 p.Arg339Cys Uncertain significance Single submitter
- BFSP2 p.Arg378Gly Uncertain significance Single submitter
- BFSP2 p.Arg5Gln Uncertain significance Single submitter
- BFSP2 p.Arg75Cys Uncertain significance Single submitter
- BFSP2 p.Asp269Gly Uncertain significance Single submitter
- BFSP2 p.Glu117Lys Uncertain significance Single submitter
-
BFSP2 p.Glu193Gly
Uncertain significance
Single submitter
cataract 12 multiple types
- BFSP2 p.Glu228Lys Uncertain significance Single submitter
- BFSP2 p.Glu243Lys Uncertain significance Single submitter
-
BFSP2 p.Glu289Lys
Conflicting
Single submitter
BFSP2-related disorder
- BFSP2 p.Glu311Asp Uncertain significance Single submitter
- BFSP2 p.Glu346Lys Uncertain significance Single submitter
- BFSP2 p.Glu371Lys Uncertain significance Single submitter
-
BFSP2 p.Glu380Lys
Uncertain significance
Single submitter
cataract 12 multiple types
- BFSP2 p.Glu387Gln Uncertain significance Single submitter
- BFSP2 p.Glu387Gly Uncertain significance Single submitter
- BFSP2 p.Gly368Cys Uncertain significance Single submitter
-
BFSP2 p.Gly64Trp
Uncertain significance
Single submitter
cataract 12 multiple types
- BFSP2 p.Gly79Ser Uncertain significance Single submitter
- BFSP2 p.His406Asp Uncertain significance Single submitter
- BFSP2 p.Leu317Phe Uncertain significance Single submitter
- BFSP2 p.Leu392Pro Uncertain significance Single submitter
- BFSP2 p.Leu78Ile Uncertain significance Single submitter
- BFSP2 p.Leu85His Uncertain significance Single submitter
- BFSP2 p.Leu88Met Uncertain significance Single submitter
-
BFSP2 p.Pro62His
Uncertain significance
Single submitter
cataract 12 multiple types
-
BFSP2 p.Ser2Asn
Uncertain significance
Single submitter
cataract 12 multiple types
- BFSP2 p.Trp150Ser Uncertain significance Single submitter
-
BFSP2 p.Tyr241Cys
Uncertain significance
Single submitter
cataract 12 multiple types
-
BFSP2 p.Arg89Trp
Uncertain significance
No assertion criteria
Developmental cataract
All BFSP2 variants
Pathogenic 3
- p.Glu233del Multiple submitters cataract 12 multiple types
- p.Trp150Ter Single submitter Abnormal thorax morphology
- p.Val56fs Single submitter cataract 12 multiple types
Conflicting classifications of pathogenicity 7
- p.Ala124Thr Single submitter cataract 12 multiple types ⚠
- p.Ala372Val Single submitter cataract 12 multiple types ⚠
- p.Arg173Trp Single submitter cataract 12 multiple types ⚠
- p.Arg76Gln Single submitter ⚠
- p.Glu289Lys Single submitter BFSP2-related disorder ⚠
- p.Gly55Arg Single submitter cataract 12 multiple types ⚠
- p.Ser34Pro Single submitter cataract 12 multiple types ⚠
Benign 31
- c.1023+31T>C Multiple submitters cataract 12 multiple types
- c.1024-96A>G Multiple submitters
- c.1244+44A>G Multiple submitters cataract 12 multiple types
- c.572+160A>G Multiple submitters cataract 12 multiple types
- p.Ala201= Multiple submitters cataract 12 multiple types
- p.Ala25= Multiple submitters cataract 12 multiple types
- p.Ala407Asp Multiple submitters cataract 12 multiple types
- p.Asn240= Multiple submitters cataract 12 multiple types
- p.His123= Multiple submitters cataract 12 multiple types
- p.Pro54= Multiple submitters cataract 12 multiple types
- p.Ser82= Multiple submitters cataract 12 multiple types
- p.Val122= Multiple submitters cataract 12 multiple types
- c.1023+199C>T Single submitter
- c.1245-256T>C Single submitter
- c.489+210G>A Single submitter
- c.489+286A>G Single submitter
- c.489+314G>A Single submitter
- c.573-216G>A Single submitter
- c.729+326dup Single submitter
- c.730-284_730-283insAGGAAGGAGGGA Single submitter
- c.730-286GGAG[4] Single submitter
- c.730-287A>G Single submitter
- c.730-320_730-319insGGA Single submitter
- c.730-320AAGG[11] Single submitter
- c.730-320AAGG[12] Single submitter
- c.730-323G>A Single submitter
- c.*73C>T Single submitter cataract 12 multiple types
- p.Arg137Gln Single submitter cataract 12 multiple types
- p.Arg146Cys Single submitter cataract 12 multiple types
- p.Thr95= Single submitter cataract 12 multiple types
- p.Ala379Glu No assertion criteria Developmental cataract
Benign/Likely benign 3
- c.730-7T>C Multiple submitters cataract 12 multiple types
- p.Gln127Glu Multiple submitters cataract 12 multiple types
- p.Leu223Val Multiple submitters cataract 12 multiple types ⚠
Likely benign 20
- c.1244+178A>G Single submitter
- c.1244+264G>A Single submitter
- c.1245-276A>G Single submitter
- c.490-300A>G Single submitter
- c.490-8C>T Single submitter
- c.730-320AAGG[10] Single submitter
- c.730-320AAGG[13] Single submitter
- c.730-320AAGG[14] Single submitter
- c.730-66T>G Single submitter
- c.892-127G>A Single submitter
- c.892-130G>A Single submitter
- c.-4G>A Single submitter cataract 12 multiple types
- c.*209C>T Single submitter cataract 12 multiple types
- p.Ala296= Single submitter cataract 12 multiple types
- p.Arg146Leu Single submitter cataract 12 multiple types
- p.Arg318Ser Single submitter cataract 12 multiple types ⚠
- p.Leu174= Single submitter cataract 12 multiple types
- p.Ser17= Single submitter cataract 12 multiple types
- p.Val367= Single submitter cataract 12 multiple types
- p.Val8= Single submitter cataract 12 multiple types
Uncertain significance 90
- p.Ala389Thr Multiple submitters cataract 12 multiple types ⚠
- p.Arg173Gln Multiple submitters cataract 12 multiple types ⚠
- p.Arg4Lys Multiple submitters cataract 12 multiple types ⚠
- p.Arg52Gln Multiple submitters ⚠
- p.Arg5Ter Multiple submitters cataract 12 multiple types
- p.Arg72His Multiple submitters cataract 12 multiple types ⚠
- p.Glu141Ala Multiple submitters cataract 12 multiple types ⚠
- p.Glu228Gly Multiple submitters ⚠
- p.Glu289Asp Multiple submitters cataract 12 multiple types ⚠
- p.Leu153Gln Multiple submitters cataract 12 multiple types ⚠
- p.Leu234Pro Multiple submitters cataract 12 multiple types ⚠
- p.Thr44Ala Multiple submitters cataract 12 multiple types ⚠
- p.Val367Gly Multiple submitters cataract 12 multiple types ⚠
- c.1244+8T>C Single submitter cataract 12 multiple types
- c.892-3C>G Single submitter BFSP2-related disorder
- c.*132G>C Single submitter cataract 12 multiple types
- c.*159T>G Single submitter cataract 12 multiple types
- c.*225G>A Single submitter cataract 12 multiple types
- c.*226C>A Single submitter cataract 12 multiple types
- p.Ala290Gly Single submitter ⚠
- p.Ala300Val Single submitter cataract 12 multiple types ⚠
- p.Ala316Asp Single submitter ⚠
- p.Ala403Thr Single submitter ⚠
- p.Arg154Leu Single submitter cataract 12 multiple types ⚠
- p.Arg287Trp Single submitter cataract 12 multiple types ⚠
- p.Arg31Trp Single submitter ⚠
- p.Arg339Cys Single submitter ⚠
- p.Arg378Gly Single submitter ⚠
- p.Arg394His Single submitter cataract 12 multiple types ⚠
- p.Arg411Gly Single submitter ⚠
- p.Arg5Gln Single submitter ⚠
- p.Arg75Cys Single submitter ⚠
- p.Arg75His Single submitter ⚠
- p.Arg89Gln Single submitter ⚠
- p.Asn149Asp Single submitter ⚠
- p.Asn347Ser Single submitter ⚠
- p.Asp269Gly Single submitter ⚠
- p.Asp282Gly Single submitter ⚠
- p.Asp357Glu Single submitter ⚠
- p.Asp9Glu Single submitter cataract 12 multiple types ⚠
- p.Glu117Lys Single submitter ⚠
- p.Glu193Gly Single submitter cataract 12 multiple types ⚠
- p.Glu228Lys Single submitter ⚠
- p.Glu243Lys Single submitter ⚠
- p.Glu311Asp Single submitter ⚠
- p.Glu346Lys Single submitter ⚠
- p.Glu371Lys Single submitter ⚠
- p.Glu37Val Single submitter ⚠
- p.Glu380Lys Single submitter cataract 12 multiple types ⚠
- p.Glu387Gln Single submitter ⚠
- p.Glu387Gly Single submitter ⚠
- p.Gly184Arg Single submitter ⚠
- p.Gly368Cys Single submitter ⚠
- p.Gly64Trp Single submitter cataract 12 multiple types ⚠
- p.Gly79Ser Single submitter ⚠
- p.His123Arg Single submitter ⚠
- p.His406Asp Single submitter ⚠
- p.Ile213Val Single submitter ⚠
- p.Ile264Val Single submitter ⚠
- p.Ile271Val Single submitter ⚠
- p.Ile66Val Single submitter ⚠
- p.Leu132= Single submitter cataract 12 multiple types
- p.Leu294Phe Single submitter cataract 12 multiple types ⚠
- p.Leu317Phe Single submitter ⚠
- p.Leu317Val Single submitter ⚠
- p.Leu392Pro Single submitter ⚠
- p.Leu78Ile Single submitter ⚠
- p.Leu85His Single submitter ⚠
- p.Leu88Met Single submitter ⚠
- p.Lys189= Single submitter cataract 12 multiple types
- p.Lys200delinsArgGln Single submitter cataract 12 multiple types
- p.Lys353Arg Single submitter cataract 12 multiple types ⚠
- p.Met175Val Single submitter ⚠
- p.Pro62His Single submitter cataract 12 multiple types ⚠
- p.Ser236Cys Single submitter ⚠
- p.Ser2Asn Single submitter cataract 12 multiple types ⚠
- p.Ser306= Single submitter cataract 12 multiple types
- p.Ser325Ala Single submitter ⚠
- p.Ser325Leu Single submitter ⚠
- p.Ser325Pro Single submitter cataract 12 multiple types ⚠
- p.Ser414Gly Single submitter cataract 12 multiple types ⚠
- p.Trp150Ser Single submitter ⚠
- p.Tyr241Cys Single submitter cataract 12 multiple types ⚠
- p.Tyr405fs Single submitter cataract 12 multiple types
- p.Val116del Single submitter cataract 12 multiple types
- p.Val283Ile Single submitter ⚠
- p.Val58Ile Single submitter ⚠
- p.Arg287= No assertion criteria
- p.Arg89Trp No assertion criteria Developmental cataract ⚠
- p.Lys400Met No assertion criteria ⚠