ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1855C>T (p.Gln619Ter) (rs80358476)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216070 SCV000277543 pathogenic Hereditary cancer-predisposing syndrome 2015-07-30 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112988 SCV000145968 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000216070 SCV000688731 pathogenic Hereditary cancer-predisposing syndrome 2017-09-11 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112988 SCV000326628 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) RCV000112988 SCV000300473 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 RCV000254954 SCV000321452 pathogenic not provided 2018-10-11 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.1855C>T at the cDNA level and p.Gln619Ter (Q619X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), 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 2083C>T using alternate nomenclature, has been reported in at least one individual with breast cancer (Rashid 2006) and is considered pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000043911 SCV000694580 pathogenic Hereditary breast and ovarian cancer syndrome 2016-01-29 criteria provided, single submitter clinical testing
Invitae RCV000043911 SCV000071924 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln619*) 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 observed in individuals affected with breast and/or ovarian cancer (PMID: 16998791, 21559243, 29487695, 29470806). This variant is also known as 2083C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 51216). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000254954 SCV000887765 pathogenic not provided 2018-06-28 criteria provided, single submitter clinical testing

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