ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2648C>T (p.Ala883Val)

dbSNP: rs431825391
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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 RCV001016204 SCV001177128 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-14 criteria provided, single submitter clinical testing The p.A883V variant (also known as c.2648C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 2648. The alanine at codon 883 is replaced by valine, 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 RCV001016204 SCV003851009 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) RCV000083028 SCV000115102 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2010-03-04 no assertion criteria provided clinical testing

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