ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1287dupA (p.Asp430Argfs) (rs80357576)

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Total submissions: 8
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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) RCV000111582 SCV000282257 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 RCV000235124 SCV000210010 pathogenic not provided 2018-10-24 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA1 is denoted c.1287dupA at the cDNA level and p.Asp430ArgfsX6 (D430RfsX6) at the protein level. The normal sequence, with the base that is duplicated in brackets, is AAAT[dupA]GACT. The duplication causes a frameshift, which changes an Aspartic Acid to an Arginine at codon 430, and creates a premature stop codon at position 6 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.1287dupA, previously reported as 1406insA using alternate nomenclature, has been observed in association with familial breast and/or ovarian cancer (Peelen 1997, Sinilnikova 2006, van der Hout 2006, Schneegans 2012). We consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111582 SCV000325004 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570848 SCV000660978 pathogenic Hereditary cancer-predisposing syndrome 2017-06-07 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)
Color RCV000570848 SCV000911643 pathogenic Hereditary cancer-predisposing syndrome 2017-11-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111582 SCV000144050 pathogenic Breast-ovarian cancer, familial 1 2002-07-10 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000111582 SCV000297584 pathogenic Breast-ovarian cancer, familial 1 2012-03-09 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496353 SCV000587117 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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