ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8488-8T>G

gnomAD frequency: 0.00001  dbSNP: rs397507405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001852627 SCV002252661 uncertain significance Hereditary breast ovarian cancer syndrome 2020-12-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 19 of the BRCA2 gene. It does not directly change the encoded amino acid sequence of the BRCA2 protein. 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, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 38165).
Sharing Clinical Reports Project (SCRP) RCV000031748 SCV000054355 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2006-02-24 no assertion criteria provided clinical testing

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