ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6833_6837del (p.Ile2278fs) (rs80359626)

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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) RCV000113656 SCV000301112 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 RCV000162934 SCV000213421 pathogenic Hereditary cancer-predisposing syndrome 2017-03-14 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113656 SCV000327530 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000478267 SCV000568478 pathogenic not provided 2016-05-09 criteria provided, single submitter clinical testing This deletion of 5 nucleotides in BRCA2 is denoted c.6833_6837delTCTTA at the cDNA level and p.Ile2278SerfsX13 (I2278SfsX13) at the protein level. The normal sequence, with the bases that are deleted in braces, is CTTA[TCTTA]GTGG. The deletion causes a frameshift which changes an Isoleucine to a Serine at codon 2278, and creates a premature stop codon at position 13 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 7057del5 using alternate nomenclature, this variant has been observed in at least one family with multiple breast cancers (Gayther 1997). We consider BRCA2 c.6833_6837delTCTTA to be pathogenic.
Counsyl RCV000113656 SCV000786272 pathogenic Breast-ovarian cancer, familial 2 2018-04-02 criteria provided, single submitter clinical testing
Color RCV000162934 SCV000911672 pathogenic Hereditary cancer-predisposing syndrome 2018-03-25 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113656 SCV000146949 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496350 SCV000587870 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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