ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9649-9T>G

gnomAD frequency: 0.00002  dbSNP: rs765352313
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581557 SCV000689216 likely benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759692 SCV000889185 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084889 SCV001126539 likely benign Hereditary breast ovarian cancer syndrome 2024-08-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174725 SCV001338003 likely benign not specified 2024-12-18 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.9649-9T>G 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.9649-9T>G 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: 491385). Based on the evidence outlined above, the variant was classified as likely benign.
All of Us Research Program, National Institutes of Health RCV004001326 SCV004830083 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-10-02 criteria provided, single submitter clinical testing
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service RCV005240234 SCV005882947 uncertain significance Inherited breast cancer and ovarian cancer 2024-09-30 criteria provided, single submitter clinical testing BP4

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