ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg)

dbSNP: rs80357222
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Total submissions: 8
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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) RCV000112505 SCV000244386 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.99
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112505 SCV000326167 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001383430 SCV001582575 pathogenic Hereditary breast ovarian cancer syndrome 2023-01-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 55414). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 11157798, 20516115, 30209399). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. This variant is also known as 5262A>C. This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 11157798, 29176636). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1715 of the BRCA1 protein (p.Ser1715Arg).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267824 SCV002550954 pathogenic not provided 2024-07-31 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000112505 SCV005045945 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2024-05-27 criteria provided, single submitter clinical testing PP3; PS3; PP1_Strong; PM2_Supporting
Breast Cancer Information Core (BIC) (BRCA1) RCV000112505 SCV000145327 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000112505 SCV001241763 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro
BRCAlab, Lund University RCV000112505 SCV004243945 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2020-03-02 no assertion criteria provided clinical testing

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