ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4314C>T (p.Val1438=) (rs730881590)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494781 SCV000578784 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000160223 SCV000210604 benign not specified 2014-06-28 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.
Ambry Genetics RCV000163622 SCV000214190 likely benign Hereditary cancer-predisposing syndrome 2014-09-30 criteria provided, single submitter clinical testing
Invitae RCV000587498 SCV000253014 likely benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000160223 SCV000591901 benign not specified 2012-02-03 criteria provided, single submitter clinical testing
Color RCV000163622 SCV000683610 likely benign Hereditary cancer-predisposing syndrome 2016-04-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587498 SCV000694765 likely benign not provided 2017-01-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4314C>T (p.Val1438Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation Taster predicts a damaging outcome for this variant. This variant does not overlap a splice site and Alamut 5/5 splicing tools predict no major changes caused by the variant. ESEfinder predicts a loss of binding motif for splicing enhancer SRp55. This variant was found in 5/119340 control chromosomes at a frequency of 0.0000419, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Publications (Ikediobi_Mol Cancer Ther_2006 and Stordal_Mol Oncol_2013) listed variant as polymorphism identified in an ovarian tumor cell line. The variant was identified as a somatic mutation in one colorectal tumor (Giannakis_NG_2014), but has not been cited as a germline mutation in patients from the literature. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as Benign/Likely Benign. Taken together, this variant is classified as Likely Benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587498 SCV000887810 likely benign not provided 2018-02-23 criteria provided, single submitter clinical testing

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