ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4062G>A (p.Thr1354=) (rs768735660)

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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 RCV000163695 SCV000214269 likely benign Hereditary cancer-predisposing syndrome 2016-06-16 criteria provided, single submitter clinical testing
Color RCV000163695 SCV000911198 likely benign Hereditary cancer-predisposing syndrome 2018-05-15 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000210983 SCV000578782 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 RCV000781060 SCV000918853 uncertain significance not specified 2017-10-12 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4062G>A (p.Thr1354Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies.This variant was found in 4/269800 control chromosomes at a frequency of 0.0000148, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000233480 SCV000283225 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000210983 SCV000195978 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759610 SCV000889038 likely benign not provided 2017-11-15 criteria provided, single submitter clinical testing

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