ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.536_537AT[1] (p.Ile180fs) (rs80359510)

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Total submissions: 5
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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) RCV000113760 SCV000300332 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 RCV000113760 SCV000327213 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571062 SCV000665935 pathogenic Hereditary cancer-predisposing syndrome 2016-07-22 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)
GeneDx RCV000657218 SCV000778944 pathogenic not provided 2016-12-13 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA2 is denoted c.538_539delAT at the cDNA level and p.Ile180PhefsX2 (I180FfsX2) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ACAT[delAT]TTCT. The deletion causes a frameshift which changes an Isoleucine to a Phenylalanine at codon 180, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.538_539delAT, also defined as 766_767delAT, has been observed in an individual with a personal history of prostate cancer and family history of breast cancer (de Juan 2015). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113760 SCV000147088 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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