ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4440T>G (p.Tyr1480Ter) (rs397507719)

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Total submissions: 4
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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) RCV000225483 SCV000282392 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 RCV000222409 SCV000279374 pathogenic not provided 2016-06-01 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.4440T>G at the cDNA level and p.Tyr1480Ter (Y1480X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also denoted BRCA2 4668T>G using alternate nomenclature, has been observed in at least one patient with ovarian cancer (Brozek 2008) and is considered pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000225483 SCV000327034 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University RCV000770916 SCV000902415 pathogenic Genetic non-acquired premature ovarian failure 2018-10-01 no assertion criteria provided literature only

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