ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1842dupT (p.Asn615Terfs) (rs80359312)

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Total submissions: 7
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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) RCV000112985 SCV000282364 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112985 SCV000326624 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000480390 SCV000568456 pathogenic not provided 2016-05-10 criteria provided, single submitter clinical testing This duplication of one nucleotide is denoted BRCA2 c.1842dupT at the cDNA level and p.Asn615Ter (N615X) at the protein level. The normal sequence, with the base that is duplicated in braces, is TAAT[T]AACT. The duplication creates a nonsense variant, which changes an Asparagine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 1842dupT, also denoted BRCA2 2070dupT and 2070insT using alternate nomenclature, has been observed in at least one breast/ovarian cancer family (Esteban Cardeñosa 2010). Based on currently available evidence, we consider this variant to be pathogenic.
Ambry Genetics RCV000562038 SCV000666082 pathogenic Hereditary cancer-predisposing syndrome 2016-07-25 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)
Integrated Genetics/Laboratory Corporation of America RCV000589322 SCV000694577 pathogenic Hereditary breast and ovarian cancer syndrome 2017-07-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1842dupT (p.Asn615X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant is absent in 117182 control chromosomes (ExAC). Multiple publications have cited the variant in affected individuals (e.g., Jimenez_Familial Cancer_2013; Hondow_BMC Cancer_2011). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000480390 SCV000887764 pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112985 SCV000145964 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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