ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.631+18G>A (rs759965817)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580532 SCV000683769 likely benign Hereditary cancer-predisposing syndrome 2017-03-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781072 SCV000918881 uncertain significance not specified 2017-09-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.631+18G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 5/241500 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.0045% (5/110018). This frequency is smaller than the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.07503%). The variant of interest was reported to occur in an affected individual, with limited information and without convincing evidence for a pathogenic role of the variant (Caux-Moncoutier 2011). In addition, one clinical diagnostic laboratory classified this variant as likely benign and one reputable database (UMD) lists this variant in 7 individuals as a VUS. Taken together, this variant is classified as VUS - possibly benign.
Invitae RCV000197662 SCV000253024 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-17 criteria provided, single submitter clinical testing

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