SRC — 89 ClinVar variants
All ClinVar germline SRC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 23 Benign · 4 Benign/Likely benign · 17 Likely benign · 43 Uncertain significance
Full SRC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SRC p.Glu492Lys Uncertain significance Multiple submitters
- SRC p.Ala34Pro Uncertain significance Single submitter
- SRC p.Ala55Val Uncertain significance Single submitter
- SRC p.Arg159Trp Uncertain significance Single submitter
- SRC p.Arg267Trp Uncertain significance Single submitter
- SRC p.Arg382Gln Uncertain significance Single submitter
- SRC p.Arg463Trp Uncertain significance Single submitter
- SRC p.Arg480Gln Uncertain significance Single submitter
- SRC p.Asn290Ser Uncertain significance Single submitter
- SRC p.Cys499Arg Uncertain significance Single submitter
- SRC p.Glu109Asp Uncertain significance Single submitter
- SRC p.Gly291Cys Uncertain significance Single submitter
- SRC p.Ile297Phe Uncertain significance Single submitter
- SRC p.Ile297Thr Uncertain significance Single submitter
- SRC p.Pro266Leu Uncertain significance Single submitter
-
SRC p.Pro307Ser
Uncertain significance
Single submitter
thrombocytopenia 6
- SRC p.Pro364Leu Uncertain significance Single submitter
- SRC p.Pro56Ser Uncertain significance Single submitter
- SRC p.Pro81Gln Uncertain significance Single submitter
- SRC p.Thr246Ser Uncertain significance Single submitter
- SRC p.Thr74Asn Uncertain significance Single submitter
- SRC p.Thr99Met Uncertain significance Single submitter
- SRC p.Tyr385Cys Uncertain significance Single submitter
- SRC p.Val177Leu Uncertain significance Single submitter
- SRC p.Val295Glu Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- SRC p.Arg110Leu Uncertain significance Single submitter
- SRC p.Arg271Trp Uncertain significance Single submitter
- SRC p.Asp496Asn Uncertain significance Single submitter
-
SRC p.Gln529Glu
Uncertain significance
Single submitter
thrombocytopenia 6
- SRC p.Glu505Gln Uncertain significance Single submitter
- SRC p.Gly291Ser Uncertain significance Single submitter
- SRC p.Pro485Ser Uncertain significance Single submitter
- SRC p.Pro487Leu Uncertain significance Single submitter
-
SRC p.Thr117Ile
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 40
- SRC p.Thr246Ile Uncertain significance Single submitter
-
SRC p.Thr357Ile
Uncertain significance
Single submitter
thrombocytopenia 6
- SRC p.Val247Met Uncertain significance Single submitter
- SRC p.Val340Ile Uncertain significance Single submitter
- SRC p.Asn400Lys Uncertain significance No assertion criteria
All SRC variants
Pathogenic 1
- p.Gln531Ter No assertion criteria Colon cancer, advanced
Likely pathogenic 1
- p.Glu527Lys Single submitter thrombocytopenia 6
Benign 23
- c.1117-180C>T Multiple submitters
- c.1271-55= Multiple submitters
- c.554-5C>T Multiple submitters
- p.Ala378= Multiple submitters
- p.Glu418= Multiple submitters
- p.Phe408= Multiple submitters
- c.250+211A>G Single submitter
- c.250+217A>G Single submitter
- c.250+219A>G Single submitter
- c.250+223A>G Single submitter
- c.250+235T>G Single submitter
- c.250+237A>T Single submitter
- c.250+238T>G Single submitter
- c.250+243T>C Single submitter
- c.250+247A>G Single submitter
- c.250+249T>G Single submitter
- c.250+257T>G Single submitter
- c.250+259A>G Single submitter
- c.250+265_250+268del Single submitter
- c.250+270_250+271insG Single submitter
- c.250+306del Single submitter
- c.553+8C>T Single submitter
- p.Gln228= Single submitter
Benign/Likely benign 4
- c.449+9C>T Multiple submitters
- p.Glu489= Multiple submitters
- p.Gly376= Multiple submitters
- p.Thr129= Multiple submitters
Likely benign 17
- c.1117-9C>T Multiple submitters
- p.Thr292Asn Multiple submitters
- c.859+6G>T Single submitter
- p.Ala141= Single submitter
- p.Asp45= Single submitter
- p.Glu381= Single submitter
- p.Phe194= Single submitter
- p.Phe310= Single submitter
- p.Pro136= Single submitter
- p.Ser143= Single submitter
- c.450-8A>T No assertion criteria SRC-related disorder
- p.Asn196= No assertion criteria SRC-related disorder
- p.Glu283= No assertion criteria SRC-related disorder
- p.Phe175= No assertion criteria SRC-related disorder
- p.Pro532= No assertion criteria SRC-related disorder
- p.Ser212= No assertion criteria SRC-related disorder
- p.Tyr187= No assertion criteria SRC-related disorder
Uncertain significance 43
- p.Glu492Lys Multiple submitters ⚠
- c.1039+5G>C Single submitter
- c.553+9G>T Single submitter
- p.Ala34Pro Single submitter ⚠
- p.Ala55Val Single submitter ⚠
- p.Arg110Leu Single submitter ⚠
- p.Arg159Trp Single submitter ⚠
- p.Arg267Trp Single submitter ⚠
- p.Arg271Trp Single submitter ⚠
- p.Arg382Gln Single submitter ⚠
- p.Arg463Trp Single submitter ⚠
- p.Arg480Gln Single submitter ⚠
- p.Asn290Ser Single submitter ⚠
- p.Asn417fs Single submitter
- p.Asp496Asn Single submitter ⚠
- p.Cys499Arg Single submitter ⚠
- p.Gln529Glu Single submitter thrombocytopenia 6 ⚠
- p.Glu109Asp Single submitter ⚠
- p.Glu505Gln Single submitter ⚠
- p.Gly282= Single submitter
- p.Gly291Cys Single submitter ⚠
- p.Gly291Ser Single submitter ⚠
- p.Ile297Phe Single submitter ⚠
- p.Ile297Thr Single submitter ⚠
- p.Pro266Leu Single submitter ⚠
- p.Pro307Ser Single submitter thrombocytopenia 6 ⚠
- p.Pro364Leu Single submitter ⚠
- p.Pro485Ser Single submitter ⚠
- p.Pro487Leu Single submitter ⚠
- p.Pro56Ser Single submitter ⚠
- p.Pro81Gln Single submitter ⚠
- p.Thr117Ile Single submitter intellectual disability, autosomal dominant 40 ⚠
- p.Thr246Ile Single submitter ⚠
- p.Thr246Ser Single submitter ⚠
- p.Thr357Ile Single submitter thrombocytopenia 6 ⚠
- p.Thr74Asn Single submitter ⚠
- p.Thr99Met Single submitter ⚠
- p.Tyr385Cys Single submitter ⚠
- p.Val177Leu Single submitter ⚠
- p.Val247Met Single submitter ⚠
- p.Val295Glu Single submitter ⚠
- p.Val340Ile Single submitter ⚠
- p.Asn400Lys No assertion criteria ⚠