ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2762del (p.Gln921fs) (rs80357703)

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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) RCV000111934 SCV000299830 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000165693 SCV000216432 pathogenic Hereditary cancer-predisposing syndrome 2014-08-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111934 SCV000325458 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657211 SCV000778937 pathogenic not provided 2017-09-13 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.2762delA at the cDNA level and p.Gln921ArgfsX79 (Q921RfsX79) at the protein level. Using alternate nomenclature, this variant has been described as BRCA1 c.2881delA. The normal sequence, with the base that is deleted in brackets, is GTAC[delA]GACA. The deletion causes a frameshift which changes a Glutamine to an Arginine at codon 921, and creates a premature stop codon at position 79 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.2762delA has been reported in at least two individuals with a personal and/or family history of high risk breast and ovarian cancer (Foretova 2004, Machackova 2008). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111934 SCV000144538 pathogenic Breast-ovarian cancer, familial 1 2005-07-20 no assertion criteria provided clinical testing

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