ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1462_1464dup (p.Ile488dup)

dbSNP: rs1593892940
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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 RCV000810089 SCV000950277 uncertain significance Hereditary breast ovarian cancer syndrome 2018-07-31 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.1462_1464dupATA, results in the insertion of 1 amino acid to the BRCA2 protein (p.Ile488dup), but otherwise preserves the integrity of the reading frame.

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