ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6771C>T (p.Pro2257=) (rs373696964)

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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 RCV000163242 SCV000213769 likely benign Hereditary cancer-predisposing syndrome 2014-09-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768604 SCV000324849 likely benign Breast and/or ovarian cancer 2016-02-23 criteria provided, single submitter clinical testing
Color RCV000163242 SCV000683809 likely benign Hereditary cancer-predisposing syndrome 2017-01-22 criteria provided, single submitter clinical testing
Counsyl RCV000409985 SCV000489269 likely benign Breast-ovarian cancer, familial 2 2016-09-12 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000409985 SCV000579085 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 RCV000442592 SCV000512381 likely benign not specified 2015-11-11 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 RCV000589138 SCV000694995 uncertain significance not provided 2016-01-14 criteria provided, single submitter clinical testing Variant summary: Variant affects a non-conserved nucleotide and results in a synonymous mutation predicted to be neutral by mutation taster. It was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.0041% which does not exceed the maximal allele frequency of a disease causing BRCA2 allele (0.75%). To our knowledge, the variant has not been reported in HBOC spectrum patients and functional studies assessing the impact of the variant on BRCA2 were not published at the time of scoring either. One clinical diagnostic laboratory classifies variant as Likely Benign via ClinVar (without evidence to independently evaluate). Considering all evidence, the variant was classified as a VUS-possibly benign until more information becomes available.
Invitae RCV000257983 SCV000635530 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000442592 SCV000600718 likely benign not specified 2017-01-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589138 SCV000887891 likely benign not provided 2017-01-05 criteria provided, single submitter clinical testing

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