ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4803A>G (p.Lys1601=) (rs886037794)

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Total submissions: 5
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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) RCV000495376 SCV000578270 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/).
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240772 SCV000265891 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Ambry Genetics RCV000563956 SCV000665842 likely benign Hereditary cancer-predisposing syndrome 2016-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000686228 SCV000813737 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-08 criteria provided, single submitter clinical testing This sequence change affects codon 1601 of the BRCA1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 27257965). ClinVar contains an entry for this variant (Variation ID: 224436). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000842427 SCV000984447 likely benign not provided 2018-04-19 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.

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