ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7204_7207CCAA[1] (p.Thr2403fs) (rs80359641)

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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) RCV000077399 SCV000301140 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000257918 SCV000073177 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr2403Lysfs*65) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individuals with a personal and/or family history of breast and/or ovarian cancer (PMID: 17513806, 22762150). ClinVar contains an entry for this variant (Variation ID: 52287). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000215912 SCV000278774 pathogenic Hereditary cancer-predisposing syndrome 2017-05-25 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077399 SCV000327610 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985578 SCV001133889 pathogenic not provided 2019-08-20 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Sharing Clinical Reports Project (SCRP) RCV000077399 SCV000109196 pathogenic Breast-ovarian cancer, familial 2 2010-11-17 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077399 SCV000147038 pathogenic Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing

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