ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5100A>G (p.Thr1700=) (rs45519437)

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Total submissions: 8
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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) RCV000494789 SCV000578340 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 RCV000163399 SCV000213940 likely benign Hereditary cancer-predisposing syndrome 2014-12-09 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 RCV001085698 SCV000253509 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000428938 SCV000512314 benign not specified 2015-04-27 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.
Color Health, Inc RCV000163399 SCV000683253 likely benign Hereditary cancer-predisposing syndrome 2015-12-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758840 SCV000887712 likely benign not provided 2017-08-30 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353890 SCV000591579 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The p.Thr1700Thr variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It has not been previously identified by our laboratory, but has been reported in the literature in a study involving 55,630 probands (frequency was not provided) from families with familiar breast and ovarian cancers, and classified as a variant of benign significance. In addition, no control chromosomes were tested to establish the frequency of the variant in the general population (Judkins 2005). This variant is listed in the dbSNP database (ID#:rs45519437) but no frequency information was provided, and so the prevalence of this variant in the population is not known. The variant was also identified in the UMD database (2x) and once in the presence of a second unclassified variant, although this does not provide any additional clarification as to the clinical significance of this variant. In summary, based on the above information, this variant is predicted benign.
Brotman Baty Institute,University of Washington RCV000494789 SCV001237599 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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