ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.930_931del (p.Cys311fs) (rs80359755)

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Total submissions: 6
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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) RCV000112865 SCV000300373 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000131853 SCV000186908 pathogenic Hereditary cancer-predisposing syndrome 2017-08-17 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 RCV000486829 SCV000568452 pathogenic not provided 2017-12-13 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.930_931delAT at the cDNA level and p.Cys311PhefsX3 (C311FfsX3) at the protein level. The normal sequence, with the bases that are deleted in braces, is CATT[AT]GTTT. The deletion causes a frameshift which changes a Cysteine to a Phenylalanine at codon 311, and creates a premature stop codon at position 3 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. Also published as BRCA2 1157delTA using alternate nomenclature, this variant has been observed in at least one individual with ovarian cancer (Walsh 2011). We consider BRCA2 c.930_931delAT to be pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000486829 SCV000883507 pathogenic not provided 2018-05-03 criteria provided, single submitter clinical testing The BRCA2 c.930_931delAT; p.Cys311fs variant (rs80359755), also known as 1157delAT, has been described in at least one individual affected with ovarian cancer (Walsh 2011). It is reported as pathogenic by several laboratories in ClinVar (Variation ID: 52812), and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant creates a frameshift by deleting two nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered pathogenic. References: Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18032-7.
Color RCV000131853 SCV000911448 pathogenic Hereditary cancer-predisposing syndrome 2017-12-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112865 SCV000145790 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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