ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.316+13A>G (rs773097109)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579746 SCV000683530 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000607980 SCV000730698 benign not specified 2015-09-15 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.
Illumina Clinical Services Laboratory,Illumina RCV000378354 SCV000383608 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229296 SCV000383609 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586995 SCV000694670 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.316+13A>G variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 2/5 splice prediction tools (MaxEntScan and Human Splicing Finder) predict creation of a novel splice donor site at position c.316+13_c.316+14. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control database ExAC at a frequency of 0.0000472 (5/105892 control chromosomes), which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). It was only found in European (Non-Finnish) subpopulation in ExAC with an allele frequency of 0.000087 (5/57540 chromosomes). While it is classified as uncertain significance by a clinical laboratory (ClinVar) and a database (UMD), one clinical laboratory classifies it as likely benign (ClinVar). Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000229296 SCV000283204 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000586995 SCV000805687 likely benign not provided 2017-10-27 criteria provided, single submitter clinical testing

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