ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4325C>A (p.Ser1442Ter) (rs80358670)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000510062 SCV000607776 pathogenic Hereditary cancer-predisposing syndrome 2015-10-30 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) RCV000113295 SCV000146409 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113295 SCV000327015 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) RCV000113295 SCV000300737 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 RCV000505839 SCV000617998 pathogenic not provided 2017-09-26 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.4325C>A at the cDNA level and p.Ser1442Ter (S1442X) atthe protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon(TCA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in a validation study of pathogenic hereditary cancer variantsidentified on whole exome sequencing (La Duca 2017) and is considered pathogenic
Invitae RCV000044395 SCV000072408 pathogenic Hereditary breast and ovarian cancer syndrome 2017-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1442 (p.Ser1442*) of the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. This variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505839 SCV000296602 pathogenic not provided 2015-10-06 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000044395 SCV000587709 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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