BRK1 — 84 ClinVar variants
All ClinVar germline BRK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
76 Benign · 8 Uncertain significance
Full BRK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BRK1 p.Arg44His Uncertain significance Single submitter
- BRK1 p.Asp40Gly Uncertain significance Single submitter
- BRK1 p.Gln4Glu Uncertain significance Single submitter
- BRK1 p.Glu5Gln Uncertain significance Single submitter
- BRK1 p.Glu72Asp Uncertain significance Single submitter
- BRK1 p.Thr49Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All BRK1 variants
Benign 76
- c.119-198G>A Multiple submitters
- c.119-241A>G Multiple submitters
- c.119-46G>C Multiple submitters
- c.201+184T>A Multiple submitters
- c.202-163G>A Multiple submitters
- c.-18C>T Multiple submitters
- c.*668T>C Multiple submitters
- c.*806T>C Multiple submitters
- c.*823A>G Multiple submitters
- c.118+1594del Single submitter
- c.118+1594dup Single submitter
- c.118+2293G>A Single submitter
- c.118+2295A>G Single submitter
- c.118+2433C>A Single submitter
- c.118+2446_118+2451dup Single submitter
- c.118+2447_118+2451dup Single submitter
- c.118+2629C>T Single submitter
- c.118+2756T>C Single submitter
- c.118+3183TTTG[4] Single submitter
- c.118+3324C>A Single submitter
- c.118+3341_118+3342dup Single submitter
- c.118+3342dup Single submitter
- c.118+3388A>G Single submitter
- c.118+3612C>G Single submitter
- c.118+3902G>T Single submitter
- c.118+4015C>A Single submitter
- c.118+4228dup Single submitter
- c.118+4393dup Single submitter
- c.118+600TA[3] Single submitter
- c.118+799C>G Single submitter
- c.118+890A>G Single submitter
- c.118+95C>A Single submitter
- c.119-1299dup Single submitter
- c.119-1371C>T Single submitter
- c.119-1465T>A Single submitter
- c.119-1527_119-1524del Single submitter
- c.119-1599G>T Single submitter
- c.119-1612C>T Single submitter
- c.119-1745A>G Single submitter
- c.119-1873dup Single submitter
- c.119-1875_119-1873dup Single submitter
- c.119-1968T>A Single submitter
- c.119-1970_119-1969insTG Single submitter
- c.119-1972_119-1971del Single submitter
- c.119-1978A>C Single submitter
- c.119-1985A>G Single submitter
- c.119-1988G>C Single submitter
- c.119-1991T>C Single submitter
- c.119-1992T>C Single submitter
- c.119-2009A>G Single submitter
- c.119-2019del Single submitter
- c.119-2098C>T Single submitter
- c.119-2178_119-2173dup Single submitter
- c.119-2527A>G Single submitter
- c.119-2588T>G Single submitter
- c.119-2963G>C Single submitter
- c.119-3002G>A Single submitter
- c.119-3030T>C Single submitter
- c.119-3077C>A Single submitter
- c.119-3078dup Single submitter
- c.119-3516T>G Single submitter
- c.119-3531dup Single submitter
- c.119-3577T>C Single submitter
- c.119-3585C>A Single submitter
- c.119-3651C>T Single submitter
- c.119-3872C>T Single submitter
- c.119-3877dup Single submitter
- c.119-3878_119-3877dup Single submitter
- c.119-4070dup Single submitter
- c.119-4437G>T Single submitter
- c.119-465G>A Single submitter
- c.119-678A>C Single submitter
- c.119-891T>C Single submitter
- c.119-904G>A Single submitter
- c.201+279A>G Single submitter
- c.*885A>C Single submitter
Uncertain significance 8
- p.Arg44His Single submitter ⚠
- p.Arg59Gln Single submitter ⚠
- p.Asp40Gly Single submitter ⚠
- p.Gln4Glu Single submitter ⚠
- p.Glu5Gln Single submitter ⚠
- p.Glu72Asp Single submitter ⚠
- p.Met41Thr Single submitter ⚠
- p.Thr49Ala Single submitter ⚠