ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)

dbSNP: rs80357094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112509 SCV000326168 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336193 SCV002645244 likely pathogenic Hereditary cancer-predisposing syndrome 2018-05-15 criteria provided, single submitter clinical testing The p.S1715R variant (also known as c.5145C>G), located in coding exon 16 of the BRCA1 gene, results from a C to G substitution at nucleotide position 5145. The serine at codon 1715 is replaced by arginine, an amino acid with dissimilar properties. In one study, this protein alteration segregated with disease in a Scandinavian family with hereditary breast and ovarian cancer (Vallon-Christersson J et al. Hum. Mol. Genet. 2001 Feb;10(4):353-60). Numerous functional studies have shown that this variant is functionally defective including in homology directed repair, yeast growth retardation, transcription assays, binding activity and specificity, protease sensitivity, and overall stability (Vallon-Christersson J et al. Hum. Mol. Genet. 2001 Feb;10:353-60; Anantha RW et al. Elife 2017 04;6; Thouvenot P et al. PLoS Genet. 2016 06;12:e1006096; Lee MS et al. Cancer Res. 2010 Jun;70:4880-90; Rowling PJ et al. J. Biol. Chem. 2010 Jun;285:20080-7). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112509 SCV000145331 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000112509 SCV001242202 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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