ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7806-3C>G

dbSNP: rs863224598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000196698 SCV000254214 uncertain significance Hereditary breast ovarian cancer syndrome 2023-08-11 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the BRCA2 gene. It does not directly change the encoded amino acid sequence of the BRCA2 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 216259). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). RNA analysis performed to evaluate the impact of this variant on mRNA splicing indicates it does not significantly alter splicing (Invitae). 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.
Counsyl RCV000409631 SCV000488619 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2016-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408880 SCV002673056 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-12 criteria provided, single submitter clinical testing The c.7806-3C>G intronic variant results from a C to G substitution 3 nucleotides upstream from coding exon 16 in the BRCA2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. RNA studies have demonstrated that this alteration results in a splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004567421 SCV005058997 uncertain significance Familial cancer of breast 2024-03-12 criteria provided, single submitter clinical testing

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