ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5141_5144del (p.Tyr1714fs) (rs80359487)

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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) RCV000113386 SCV000282400 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000222425 SCV000279554 pathogenic not provided 2015-11-12 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRCA2 is denoted c.5141_5144delATTT at the cDNA level and p.Tyr1714CysfsX10(Y1714CfsX10) at the protein level. The normal sequence, with the bases that are deleted in braces, is AATT[ATTT]GTAT. The deletion causes a frameshift, which changes a Tyrosine to a Cysteine at codon 1714, and creates a premature stop codon at position 10 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.5141_5144delATTT, also published as 5369delATTT and 5369del4, has been observed in multiple individuals with Hereditary Breast and Ovarian Cancer (Beristain 2010, Salgado 2010, Kang 2015). We consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113386 SCV000327139 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000580462 SCV000683674 pathogenic Hereditary cancer-predisposing syndrome 2016-10-07 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113386 SCV000146546 pathogenic Breast-ovarian cancer, familial 2 2004-02-19 no assertion criteria provided clinical testing

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