ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8322dupT (p.Met2775Tyrfs) (rs80359706)

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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) RCV000031736 SCV000301263 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240726 SCV000265913 pathogenic Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Ambry Genetics RCV000220249 SCV000275718 pathogenic Hereditary cancer-predisposing syndrome 2017-08-24 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 RCV000031736 SCV000327860 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000377823 SCV000329697 pathogenic not provided 2016-11-04 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.8322dupT at the cDNA level and p.Met2775TyrfsX7(M2775YfsX7) at the protein level. The normal sequence, with the base that is duplicated in braces, is CTCT[T]ATGT. The duplication causes a frameshift, which changes a Methionine to a Tyrosine at codon 2775, and creates a premature stop codon at position 7 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. BRCA2 c.8322dupT, also published as 8550insT using alternate nomenclature, has been observed in at least two individuals with a personal or family history of breast and/or ovarian cancer (Weitzel 2005, Borg 2010). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000377823 SCV000887936 pathogenic not provided 2017-09-08 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031736 SCV000054343 pathogenic Breast-ovarian cancer, familial 2 2008-02-27 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031736 SCV000147317 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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