ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1067del (p.Gln356fs) (rs80357796)

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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) RCV000077480 SCV000299531 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077480 SCV000324944 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000482852 SCV000568428 pathogenic not provided 2016-07-18 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.1067delA at the cDNA level and p.Gln356ArgfsX18 (Q356RfsX18) at the protein level. The normal sequence, with the base that is deleted in braces, is AAGC[A]GAAA. The deletion causes a frameshift which changes a Glutamine to an Arginine at codon 356, and creates a premature stop codon at position 18 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.1067delA has been observed in at least two individuals with a personal and/or family history consistent with Hereditary Breast and Ovarian Cancer (Ricci 2014). We consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077480 SCV000109278 pathogenic Breast-ovarian cancer, familial 1 2009-11-25 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077480 SCV000143997 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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