ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.960A>G (p.Leu320=)

dbSNP: rs890456700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431309 SCV000529494 likely benign not specified 2016-07-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000637825 SCV000759304 likely benign Hereditary breast ovarian cancer syndrome 2017-09-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999410 SCV005625353 uncertain significance not provided 2024-01-17 criteria provided, single submitter clinical testing The BRCA2 c.960A>G (p.Leu320=) synonymous variant has not been reported in individuals with BRCA2-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BRCA2 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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