ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5634C>T (p.Asn1878=) (rs80358784)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163214 SCV000213737 likely benign Hereditary cancer-predisposing syndrome 2014-07-17 criteria provided, single submitter clinical testing
Color RCV000163214 SCV000683719 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495190 SCV000578702 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/).
Integrated Genetics/Laboratory Corporation of America RCV000587082 SCV000694885 uncertain significance not provided 2017-03-02 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5634C>T (p.Asn1878Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous amino acid change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 10/120554 control chromosomes at a frequency of 0.000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). However, the variant could still be a rare polymorphism. The variant has been reported in affected individual without a strong evidence for causality (Caux-Moncoutier_2011). Two clinical labs have classified the variant as likely benign, and one reputable database lists variant as VUS, all without evidence for independent evaluation. Taken together, this variant has currently been classified as VUS-possibly benign unitl more information becomes available.
Invitae RCV000232776 SCV000283267 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507230 SCV000600651 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587082 SCV000887852 likely benign not provided 2017-04-28 criteria provided, single submitter clinical testing

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