ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1018del (p.Lys339_Val340insTer) (rs80357774)

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Total submissions: 7
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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) RCV000030968 SCV000282253 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000236511 SCV000292507 pathogenic not provided 2018-09-21 criteria provided, single submitter clinical testing This deletion of one nucleotide is denoted BRCA1 c.1018delG at the cDNA level and p.Val340Ter (V340X) at the protein level. The normal sequence, with the base that is deleted in brackets, is AAAG[delG]TAGA. The deletion creates a nonsense variant, which changes a Valine to a premature stop codon. This deletion is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 1018delG, previously reported as 1137delG, has been reported in association with breast and ovarian cancer (Eccles 1998, Scott 2003, Judkins 2005). We consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000030968 SCV000324932 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000776317 SCV000911644 pathogenic Hereditary cancer-predisposing syndrome 2017-12-13 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000030968 SCV000053559 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000030968 SCV000143984 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 RCV000496564 SCV000587095 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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