ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) (rs199879914)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162513 SCV000212905 likely benign Hereditary cancer-predisposing syndrome 2014-10-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000456829 SCV000541031 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Color RCV000162513 SCV000537427 likely benign Hereditary cancer-predisposing syndrome 2015-06-08 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495454 SCV000579046 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/).
Illumina Clinical Services Laboratory,Illumina RCV000122915 SCV000383712 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329212 SCV000383713 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000585978 SCV000694850 likely benign not provided 2017-02-23 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5268A>G (p.Val1756Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide, which 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may create a novel SC35 ESE site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 5/120398 control chromosomes at a frequency of 0.0000415, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). A validation study, Caux-Moncoutier_2011, cites the variant to be observed in their dataset, although with limited information (ie, lack of co-occurrence and cosegregation data). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign or uncertain significance. Furthermore, an internal LCA sample reports the variant to co-occur with a pathogenic BRCA2 variant, c.5946delT (p.Ser1982fsX22), suggesting the variant to be in the benign spectrum. Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as "likely benign."
Invitae RCV000122915 SCV000166173 benign Hereditary breast and ovarian cancer syndrome 2017-12-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000585978 SCV000887846 likely benign not provided 2018-02-18 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162513 SCV000886674 likely benign Hereditary cancer-predisposing syndrome 2018-09-06 no assertion criteria provided clinical testing

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