ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3143G>A (p.Gly1048Asp) (rs80356899)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129517 SCV000184292 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000588811 SCV000321427 uncertain significance not provided 2018-11-20 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3143G>A at the cDNA level, p.Gly1048Asp (G1048D) at the protein level, and results in the change of a Glycine to an Aspartic Acid (GGT>GAT). Using alternate nomenclature, this variant would be defined as BRCA1 3262G>A. This variant has been reported in at least two individuals undergoing clinical testing for hereditary breast and ovarian cancer (Anczukow 2005, Judkins 2005). BRCA1 Gly1048Asp was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the DNA binding domain and in a region reported to interact with RAD51 (Chen 1998, Narod 2004). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRCA1 Gly1048Asp is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000255426 SCV000600318 uncertain significance not specified 2017-05-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588811 SCV000699005 uncertain significance not provided 2016-02-01 criteria provided, single submitter clinical testing
Counsyl RCV000112008 SCV000785538 uncertain significance Breast-ovarian cancer, familial 1 2017-09-06 criteria provided, single submitter clinical testing
Mendelics RCV000709476 SCV000839258 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112008 SCV000144648 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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