ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.987T>C (p.Asn329=) (rs774849810)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000410027 SCV000578381 likely benign Breast-ovarian cancer, familial 1 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/).
Ambry Genetics RCV000165153 SCV000215864 likely benign Hereditary cancer-predisposing syndrome 2014-07-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001082587 SCV000253522 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-27 criteria provided, single submitter clinical testing
Counsyl RCV000410027 SCV000487878 likely benign Breast-ovarian cancer, familial 1 2015-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000586237 SCV000516573 likely benign not provided 2019-06-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16267036)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000431023 SCV000602713 likely benign not specified 2017-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586237 SCV000699324 likely benign not provided 2017-03-07 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.987T>C (p.Asn329Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 9/121402 (1/13495), predominantly in the Latino cohort, 9/11574 (1/1286), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA1 variant of 1/1000. A publication, Judkins_2005, cites the variant in an affected individual, however, with limited information (ie, lack of cosegregation data), although the authors do classify the variant as a "polymorphism." In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
PreventionGenetics,PreventionGenetics RCV000586237 SCV000806989 likely benign not provided 2017-04-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586237 SCV000888961 benign not provided 2018-08-22 criteria provided, single submitter clinical testing
Color Health, Inc RCV000165153 SCV001356328 likely benign Hereditary cancer-predisposing syndrome 2018-11-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000586237 SCV001747811 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing

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