ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4698C>T (p.Thr1566=) (rs750813972)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166260 SCV000217040 likely benign Hereditary cancer-predisposing syndrome 2014-10-09 criteria provided, single submitter clinical testing
Color RCV000166260 SCV000906088 likely benign Hereditary cancer-predisposing syndrome 2017-11-26 criteria provided, single submitter clinical testing
Counsyl RCV000410378 SCV000489484 likely benign Breast-ovarian cancer, familial 2 2016-10-11 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000410378 SCV000578752 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 RCV000417761 SCV000517233 likely benign not specified 2016-05-04 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.
Integrated Genetics/Laboratory Corporation of America RCV000586732 SCV000694796 uncertain significance not provided 2016-04-14 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4698C>T variant affects a non-conserved nucleotide, resulting in no amino acid change. Variant is predicted to be a polymorphism by mutation taster and to not significantly effect splicing or splice enhancer binding motifs (5/5 in silico analyses - Alamut). However, functional studies had not been published at the time of variant classification. This variant was found in 4/120704 control chromosomes at a frequency of 0.0000331, which does not exceed maximal expected frequency of a pathogenic BRCA2 allele (0.0007503). The variant has been identified in at least one breast cancer patient in the literature without evidence of causality (i.e. co-segregation data). In addition, one clinical laboratory classified this variant as likely benign without evidence to independently evaluate. Taken together, this variant was classified as a VUS-possibly benign until additional information is available.
Invitae RCV000542161 SCV000635398 likely benign Hereditary breast and ovarian cancer syndrome 2017-06-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000417761 SCV000600602 likely benign not specified 2016-10-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586732 SCV000887821 benign not provided 2017-08-07 criteria provided, single submitter clinical testing

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