ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8755-11A>G

dbSNP: rs1371032020
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776678 SCV000912303 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001232585 SCV001405148 uncertain significance Hereditary breast ovarian cancer syndrome 2023-08-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 630716). This variant has been observed in individual(s) with breast cancer (PMID: 31871109). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 21 of the BRCA2 gene. It does not directly change the encoded amino acid sequence of the BRCA2 protein.
Baylor Genetics RCV003472303 SCV004211854 uncertain significance Familial cancer of breast 2023-10-17 criteria provided, single submitter clinical testing
Mendelics RCV003987701 SCV004805212 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2024-03-27 criteria provided, single submitter clinical testing

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