ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2806G>A (p.Asp936Asn)

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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 RCV002441645 SCV002747456 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-14 criteria provided, single submitter clinical testing The p.D936N variant (also known as c.2806G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 2806. The aspartic acid at codon 936 is replaced by asparagine, an amino acid with highly 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 RCV002441645 SCV003849338 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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