ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5152+15A>G (rs750905289)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439630 SCV000512315 likely benign not specified 2016-12-19 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.
Invitae RCV000496840 SCV000636012 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-28 criteria provided, single submitter clinical testing
Color RCV000580343 SCV000683259 likely benign Hereditary cancer-predisposing syndrome 2016-08-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588153 SCV000699208 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.5152+15A>G 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 the ExAC dataset in 1/118024 control chromosomes at a frequency of 0.0000085, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). Additionaly, in gnomAD, the variant was identified at a low frequency as well (0.000012; 3/245902 chrs tested). In addition, one clinical diagnostic laboratory classified this variant as "Likely Benign". Taken together, this variant is classified as VUS-Possibly Benign.
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000496840 SCV000586907 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-04-14 no assertion criteria provided clinical testing

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