ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6937+5A>G

dbSNP: rs397507379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179754 SCV001344484 likely benign Hereditary cancer-predisposing syndrome 2020-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001179754 SCV002662078 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-11 criteria provided, single submitter clinical testing The c.6937+5A>G intronic variant results from an A to G substitution 5 nucleotides after coding exon 11 in the BRCA2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002558922 SCV003490650 uncertain significance Hereditary breast ovarian cancer syndrome 2022-01-27 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 920785). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 12 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.

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