ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.929del (p.Gln310fs) (rs80357844)

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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) RCV000031289 SCV000299507 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 RCV000131986 SCV000187044 pathogenic Hereditary cancer-predisposing syndrome 2018-01-05 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)
GeneDx RCV000235314 SCV000292505 pathogenic not provided 2018-04-02 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.929delA at the cDNA level and p.Gln310ArgfsX4 (Q310RfsX4) at the protein level. The normal sequence, with the base that is deleted in braces, is AAAC[A]GCCT. The deletion causes a frameshift, which changes a Glutamine to an Arginine at codon 310, and creates a premature stop codon at position 4 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.929delA, previously reported as BRCA1 1048delA, has been observed in association with breast and ovarian cancer (Friedman 1995, Zhang 2011, Song 2014, Couch 2015). We consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031289 SCV000326465 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000031289 SCV000564311 pathogenic Breast-ovarian cancer, familial 1 2015-07-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031289 SCV000053894 pathogenic Breast-ovarian cancer, familial 1 2012-09-10 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031289 SCV000143955 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 RCV000496711 SCV000587087 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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