ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5301A>G (p.Lys1767=)

dbSNP: rs1555284161
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586078 SCV000694856 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000975507 SCV001123393 likely benign Hereditary breast ovarian cancer syndrome 2022-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023889 SCV001185830 likely benign Hereditary cancer-predisposing syndrome 2019-06-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4 RCV001023889 SCV002536124 likely benign Hereditary cancer-predisposing syndrome 2021-07-12 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000359 SCV005624453 uncertain significance not provided 2024-11-24 criteria provided, single submitter clinical testing The BRCA2 c.5301A>G (p.Lys1767=) 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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