ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.682-10A>G (rs397507377)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204674 SCV000260516 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-09-06 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the BRCA2 mRNA. It does not directly change the encoded amino acid sequence of the BRCA2 protein. This variant is not present in population databases and has not been reported in the literature. ClinVar contains an entry for this variant (Variation ID: 38066). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000031648 SCV000054255 uncertain significance Breast-ovarian cancer, familial 2 2009-05-20 no assertion criteria provided clinical testing

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