ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.475+6A>G

dbSNP: rs2072344881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071899 SCV001237231 likely benign Hereditary breast ovarian cancer syndrome 2024-06-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188571 SCV001355644 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-09 criteria provided, single submitter clinical testing This variant causes an A>G nucleotide substitution at the +6 position of intron 5 of the BRCA2 gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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