ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.378A>G (p.Gln126=) (rs786201256)

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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) RCV000495284 SCV000578104 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 RCV000163181 SCV000213702 likely benign Hereditary cancer-predisposing syndrome 2016-11-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000501018 SCV000605852 uncertain significance not specified 2017-03-20 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163181 SCV000688452 likely benign Hereditary cancer-predisposing syndrome 2017-08-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000501018 SCV000699072 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV000637353 SCV000758808 likely benign Hereditary breast and ovarian cancer syndrome 2020-09-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590434 SCV000888898 likely benign not provided 2017-10-24 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000590434 SCV000591260 uncertain significance not provided no assertion criteria provided clinical testing The BRCA1 p.Gln126Gln was identified in the ClinVar database, submitted by Ambry Genetics with a classification of “likely benign”. The variant was not identified in the literature, nor was it identified in other database searches (dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), Exome Aggregation Consortium (ExAC), HGMD, LOVD, COSMIC, GeneInsight COGR, BIC, UMD). The variant does not result in a change of amino acid and is not located in a known consensus splice site; however, four of five in silico splicing prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict the creation of a cryptic 3’ splice site in the region. It should be noted that these predictions are not enough to assume pathogenicity as no functional data to support these predictions was identified. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.

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