ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3967A>T (p.Lys1323Ter) (rs80358648)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131094 SCV000186024 pathogenic Hereditary cancer-predisposing syndrome 2017-01-12 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)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113255 SCV000146350 pathogenic Breast-ovarian cancer, familial 2 1999-04-12 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113255 SCV000326946 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000113255 SCV000677678 likely pathogenic Breast-ovarian cancer, familial 2 2016-11-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113255 SCV000300691 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000485337 SCV000567009 pathogenic not provided 2017-09-22 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.3967A>T at the cDNA level and p.Lys1323Ter (K1323X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Also reported as BRCA2 4195A>T this variant has been observed in at least one individual with breast cancer and in one individual with familial pancreatic cancer (Malone 2006, Zhen 2014). We consider BRCA2 Lys1323Ter to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000485337 SCV000889034 pathogenic not provided 2018-01-04 criteria provided, single submitter clinical testing

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