ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.758C>A (p.Ala253Glu)

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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 RCV002394151 SCV002668673 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-31 criteria provided, single submitter clinical testing The p.A253E variant (also known as c.758C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 758. The alanine at codon 253 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious 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 RCV002394151 SCV003847963 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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