ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) (rs80357069)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077620 SCV001161715 uncertain significance Breast-ovarian cancer, familial 1 2019-03-25 reviewed by expert panel curation To our knowledge this variant has only been seen alone once, in a male control in gnomAD (South Asian population). Clinical evidence in Goldgar et al 2004 (PMID: 15290653) is not applicable unless this variant is observed in cis with c.5359T>A (Variation ID 55548). We recommend that if c.5363G>A is detected in an individual, presence of c.5359T>A should be assessed. Functional assay data analysis of the c.5363G>A variant suggests that it is unlikely to alter protein function alone, but that it does alter function when in combination with BRCA1 c.5359T>A (PMID: 30765603; 30209399). For more information see the haplotype entry BRCA1 c.[5359T>A;5363G>A] (Variant ID 624568).
Sharing Clinical Reports Project (SCRP) RCV000077620 SCV000109423 pathogenic Breast-ovarian cancer, familial 1 2008-04-07 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077620 SCV000145481 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496269 SCV000587503 uncertain significance not specified 2014-01-31 no assertion criteria provided research
Brotman Baty Institute,University of Washington RCV000077620 SCV001242677 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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