ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1927A>G (p.Ser643Gly) (rs80357105)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236055 SCV000293185 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1927A>G at the cDNA level, p.Ser643Gly (S643G) at the protein level, and results in the change of a Serine to a Glycine (AGT>GGT). Using alternate nomenclature, this variant has been previously published as BRCA1 2046A>G, having been observed in a breast cancer family (Stoppa-Lyonnet 1997). BRCA1 Ser643Gly was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Serine and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Ser643Gly occurs at a position where amino acids with properties similar to Serine are tolerated across species and is located in the DNA binding domain (Narod 2004). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether BRCA1 Ser643Gly is pathogenic or benign.
Counsyl RCV000077502 SCV000785055 uncertain significance Breast-ovarian cancer, familial 1 2017-03-28 criteria provided, single submitter clinical testing
Color RCV000775173 SCV000909358 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077502 SCV000109302 uncertain significance Breast-ovarian cancer, familial 1 2009-02-06 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077502 SCV000144251 uncertain significance Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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