ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8953+16C>T (rs81002892)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000114020 SCV000147496 uncertain significance Breast-ovarian cancer, familial 2 1998-11-30 no assertion criteria provided clinical testing
Color RCV000580470 SCV000684009 benign Hereditary cancer-predisposing syndrome 2016-08-30 criteria provided, single submitter clinical testing
Counsyl RCV000114020 SCV000221113 likely benign Breast-ovarian cancer, familial 2 2015-02-03 criteria provided, single submitter literature only
GeneDx RCV000160254 SCV000210677 benign not specified 2014-09-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588368 SCV000695195 likely benign not provided 2017-02-10 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8953+16C>T 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 11/117638 control chromosomes at a frequency of 0.0000935, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/ likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000045666 SCV000073679 benign Hereditary breast and ovarian cancer syndrome 2017-11-22 criteria provided, single submitter clinical testing

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