ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.289G>T (p.Glu97Ter) (rs397507646)

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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 RCV000166898 SCV000217715 pathogenic Hereditary cancer-predisposing syndrome 2017-09-07 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)
Color RCV000166898 SCV000683509 pathogenic Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083095 SCV000326785 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083095 SCV000300315 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 RCV000214710 SCV000279386 pathogenic not provided 2017-02-24 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.289G>T at the cDNA level and p.Glu97Ter (E97X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also published as BRCA2 517G>T using alternate nomenclature, has been reported in families with breast and ovarian cancer (van der Hout 2006, Papi 2009, Kang 2015) and is considered pathogenic.
Mendelics RCV000709286 SCV000838727 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083095 SCV000115169 pathogenic Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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