ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer) (rs587782780)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132320 SCV000187406 pathogenic Hereditary cancer-predisposing syndrome 2016-09-02 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)
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241369 SCV000300487 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 RCV000657822 SCV000779577 pathogenic not provided 2017-07-18 criteria provided, single submitter clinical testing This deletion of five nucleotides is denoted BRCA2 c.2059_2063delGATTA at the cDNA level and p.Asp687Ter (D687X) at the protein level. The normal sequence, with the bases that are deleted in brackets, is TCTT[delGATTA]TAAA. The deletion creates a nonsense variant, which changes an Aspartic Acid 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 c.2059_2063delGATTA, also denoted BRCA2 2287_2291delGATTA, 2059del5, and 2287del5 using alternate nomenclature, has been observed in at least two individuals with breast cancer (Li 2014, Zhong 2016). This variant is considered pathogenic.
Invitae RCV000637652 SCV000759121 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp687*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with breast and ovarian cancer (PMID: 24961674, 27257965). ClinVar contains an entry for this variant (Variation ID: 142868). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240749 SCV000265899 pathogenic Neoplasm of the breast 2015-11-01 criteria provided, single submitter research

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