ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5688A>G (p.Ala1896=) (rs768907899)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163288 SCV000213816 likely benign Hereditary cancer-predisposing syndrome 2014-11-03 criteria provided, single submitter clinical testing
Color RCV000163288 SCV000683725 likely benign Hereditary cancer-predisposing syndrome 2016-01-11 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000211036 SCV000744474 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000211036 SCV000733271 likely benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000211036 SCV000579091 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 RCV000615328 SCV000730834 benign not specified 2015-04-21 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000211036 SCV000743311 likely benign Breast-ovarian cancer, familial 2 2014-10-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587180 SCV000694891 likely benign not provided 2016-04-04 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5688A>G variant affects a non-conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts a benign outcome for this variant, 4/5 Alamut algorithms no change to splice sites, and there are no predicted changes to ESEs. This variant was found in 2/120666 control chromosomes at a frequency of 0.0000166, which does not significantly exceed maximal expected frequency of a pathogenic BRCA2 allele (0.0007503). However, one clinical lab classifies the variant as likely benign (without evidence to independently evaluate), and the variant was reported to co-occur with a pathogenic BRCA1 variant (p.Arg1203X) in one individual from the UMD database. This variant has several supporting evidence lines for a benign outcome, thus in accordance with ACMG guidelines, this BRCA2 synonymous variant was classified as likely benign.
Invitae RCV000231127 SCV000283269 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-30 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000211036 SCV000267784 likely benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000163288 SCV000787936 likely benign Hereditary cancer-predisposing syndrome 2017-09-11 no assertion criteria provided clinical testing

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