ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg) (rs80357222)

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Total submissions: 6
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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 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 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV001383430 SCV001582575 pathogenic Hereditary breast and ovarian cancer syndrome 2019-03-07 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 1715 of the BRCA1 protein (p.Ser1715Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in families with breast and/or ovarian cancer (PMID: 11157798, 29176636). In one of these families, this variant was shown to segregate with disease. This variant is also known as 5262A>C in the literature. ClinVar contains an entry for this variant (Variation ID: 55414). This variant has been reported to affect BRCA1 protein function (PMID: 11157798, 20516115, 30209399). Based on a multifactorial likelihood algorithm using genetic/in silico/statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 17924331). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV001664018 SCV001878735 pathogenic Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter curation
Breast Cancer Information Core (BIC) (BRCA1) RCV000112505 SCV000145327 uncertain significance Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000112505 SCV001241763 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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