ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.517-8_517-7delinsAT

dbSNP: rs2072348629
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350686 SCV001545096 uncertain significance Hereditary breast ovarian cancer syndrome 2020-02-13 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the BRCA2 gene. It does not directly change the encoded amino acid sequence of the BRCA2 protein. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with BRCA2-related conditions. 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. 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.

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