ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8021dup (p.Ile2675fs) (rs397507952)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563722 SCV000661432 pathogenic Hereditary cancer-predisposing syndrome 2017-05-26 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 RCV000256831 SCV000327799 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) RCV000256831 SCV000324614 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000482911 SCV000565763 pathogenic not provided 2016-06-29 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.8021dupA at the cDNA level and p.Ile2675AspfsX6 (I2675DfsX6) at the protein level. The normal sequence, with the base that is duplicated in braces, is TAAAAA[A]GATA. The duplication causes a frameshift which changes an Isoleucine to an Aspartic Acid at codon 2675, and creates a premature stop codon at position 6 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.8021dupA has been reported at least once, in an individual with a personal history of head and neck cancer and no family history of cancer (Meric-Bernstam 2016). We consider this variant to be pathogenic.

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