ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2281G>A (p.Glu761Lys)

dbSNP: rs397507198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002444448 SCV002735489 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-10 criteria provided, single submitter clinical testing The p.E761K variant (also known as c.2281G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 2281. The glutamic acid at codon 761 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV002444448 SCV003847791 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Sharing Clinical Reports Project (SCRP) RCV000031041 SCV000053635 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2007-09-27 no assertion criteria provided clinical testing

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