ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1085A>G (p.Asp362Gly)

dbSNP: rs561004600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985461 SCV001133670 uncertain significance not provided 2019-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017162 SCV001178198 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-25 criteria provided, single submitter clinical testing The p.D362G variant (also known as c.1085A>G), located in coding exon 9 of the BRCA2 gene, results from an A to G substitution at nucleotide position 1085. The aspartic acid at codon 362 is replaced by glycine, 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV001017162 SCV003849830 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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