ClinVar Miner

Submissions for variant NC_000013.10:g.(?_32972833)_32977495del

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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 RCV001348762 SCV001543073 uncertain significance Hereditary breast ovarian cancer syndrome 2017-08-30 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 27 of the BRCA2 gene (c.10183_*4588del). While this deletion is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acids of the BRCA2 protein. This variant has not been reported in the literature in individuals with BRCA2-related disease. Experimental studies and prediction algorithms are not available for this partial exon deletion, and the functional significance of the disrupted amino acids is currently unknown. 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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