ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6718C>T (p.Leu2240=) (rs762191939)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586734 SCV000694988 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6718C>T (p.Leu2240Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. The ESE finder predicts that this variant may eliminate an SF2/ASF (IgM BRCA1) ESE site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121192 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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