ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6842-11T>A

gnomAD frequency: 0.00001  dbSNP: rs81002877
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582303 SCV000689002 likely benign Hereditary cancer-predisposing syndrome 2017-04-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193203 SCV001361909 likely benign not specified 2024-12-17 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.6842-11T>A alters a conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, no occurrence of c.6842-11T>A in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 52208). Based on the evidence outlined above, the variant was classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001484190 SCV001688602 likely benign Hereditary breast ovarian cancer syndrome 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV003233098 SCV003930480 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Also known as 7070-11T>A; This variant is associated with the following publications: (PMID: 21523855, 31131967)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113663 SCV000146956 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2004-02-20 no assertion criteria provided clinical testing

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