ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.243A>G (p.Gln81=)

dbSNP: rs863224418
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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) RCV000495579 SCV000578119 likely benign Breast-ovarian cancer, familial, susceptibility to, 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/).
Invitae RCV001087494 SCV000253498 likely benign Hereditary breast ovarian cancer syndrome 2023-10-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000855614 SCV000698952 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586273 SCV000885076 likely benign not provided 2018-03-28 criteria provided, single submitter clinical testing The BRCA1 c.243A>G; p.Gln81Gln variant (rs863224418) has been described once to co-occur with a pathogenic BRCA2 variant (see link to UMD database). It has been reported as likely benign in ClinVar (Variation ID: 215871) and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This is a synonymous change, the nucleotide is weakly conserved, and computational algorithms do not predict that this variant impacts splicing (Alamut v.2.11). Based on available information, this variant is considered likely benign. References: Link to UMD database: http://www.umd.be/BRCA2/4DACTION/Web_D_splice/5715
Ambry Genetics RCV001015540 SCV001176385 likely benign Hereditary cancer-predisposing syndrome 2018-09-06 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.
Color Diagnostics, LLC DBA Color Health RCV001015540 SCV001339965 likely benign Hereditary cancer-predisposing syndrome 2019-08-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000855614 SCV002067594 likely benign not specified 2018-12-21 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV000495579 SCV001243760 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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