ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8488-19G>A (rs398122607)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771215 SCV000903269 likely benign Hereditary cancer-predisposing syndrome 2017-11-16 criteria provided, single submitter clinical testing
Counsyl RCV000077031 SCV000785403 likely benign Breast-ovarian cancer, familial 2 2017-07-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588461 SCV000695158 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8488-19G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing, while ESE finder predicts the loss of an SRp55 binding motif. However, these predictions have yet to be confirmed by functional studies. This variant was found in 6/121142 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.000519 (6/11562), which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as a VUS-possibly benign.
Invitae RCV000227411 SCV000283344 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077031 SCV000108828 likely benign Breast-ovarian cancer, familial 2 2012-03-20 no assertion criteria provided clinical testing

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