ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4211_4215del (p.Thr1403_Ser1404insTer) (rs786203340)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508105 SCV000602787 pathogenic not specified 2016-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000166608 SCV000217412 pathogenic Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),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 RCV000241456 SCV000326988 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) RCV000241456 SCV000300722 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 RCV000688539 SCV000816156 pathogenic Hereditary breast and ovarian cancer syndrome 2018-05-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1404*) 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 an individual with ovarian cancer (PMID: 24728189). ClinVar contains an entry for this variant (Variation ID: 186940). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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