ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2561C>T (p.Ala854Val)

dbSNP: rs80357315
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015939 SCV001176834 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-30 criteria provided, single submitter clinical testing The p.A854V variant (also known as c.2561C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 2561. The alanine at codon 854 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly 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.
Color Diagnostics, LLC DBA Color Health RCV001015939 SCV001340805 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-30 criteria provided, single submitter clinical testing
Invitae RCV001350271 SCV001544659 uncertain significance Hereditary breast ovarian cancer syndrome 2021-08-31 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV001015939 SCV003847578 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).
Breast Cancer Information Core (BIC) (BRCA1) RCV000111889 SCV000144473 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2004-11-25 no assertion criteria provided clinical testing

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