ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2825C>A (p.Ala942Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002435026 SCV002746688 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-11 criteria provided, single submitter clinical testing The p.A942D variant (also known as c.2825C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 2825. The alanine at codon 942 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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 RCV002435026 SCV003849320 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).

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