ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3860_3863del (p.Asn1287fs) (rs80359410)

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Total submissions: 6
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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) RCV000113230 SCV000300676 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113230 SCV000326926 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565441 SCV000665075 pathogenic Hereditary cancer-predisposing syndrome 2016-03-21 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),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Integrated Genetics/Laboratory Corporation of America RCV000589123 SCV000694726 pathogenic Hereditary breast and ovarian cancer syndrome 2016-02-17 criteria provided, single submitter clinical testing
Invitae RCV000589123 SCV000959842 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1287Ilefs*5) 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 several individuals undergoing testing for or with a personal or family history of breast and/or ovarian cancer (PMID: 22762150, 26556299). This variant is also known as c.3858_3861delAAAT in the literature. ClinVar contains an entry for this variant (Variation ID: 51544). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113230 SCV000146316 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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