ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1674del (p.Gly559fs) (rs80357600)

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Total submissions: 12
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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) RCV000031006 SCV000299634 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000047556 SCV000075569 pathogenic Hereditary breast and ovarian cancer syndrome 2018-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly559Valfs*13) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals and families affected with breast and/or ovarian cancer (PMID: 9145677, 11773283, 23479189, 23683081). This variant is also known as 1790delA and 1793delA in the literature. ClinVar contains an entry for this variant (Variation ID: 37425). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031006 SCV000325121 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000470654 SCV000540950 pathogenic Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000486975 SCV000568426 pathogenic not provided 2018-05-29 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.1674delA at the cDNA level and p.Gly559ValfsX13 (G559VfsX13) at the protein level. The normal sequence, with the base that is deleted in brackets, is CAAA[delA]GGTG. The deletion causes a frameshift which changes a Glycine to a Valine at codon 559, and creates a premature stop codon at position 13 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.1674delA, also published as BRCA1 1793delA using alternate nomenclature, has been reported in association with hereditary breast and ovarian cancer (Geisler 2002, Dworkin 2009, Rodriguez 2012, Blay 2013, de Juan Jimenez 2013). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000486975 SCV000600261 pathogenic not provided 2016-09-27 criteria provided, single submitter clinical testing
Color RCV000580485 SCV000682976 pathogenic Hereditary cancer-predisposing syndrome 2017-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000031006 SCV000785551 pathogenic Breast-ovarian cancer, familial 1 2017-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580485 SCV001173079 pathogenic Hereditary cancer-predisposing syndrome 2017-11-14 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Sharing Clinical Reports Project (SCRP) RCV000031006 SCV000053599 pathogenic Breast-ovarian cancer, familial 1 2010-07-16 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031006 SCV000144153 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000047556 SCV000587156 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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