ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5557dup (p.Cys1853fs) (rs587782011)

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Total submissions: 3
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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) RCV000661693 SCV000783997 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000373216 SCV000330693 pathogenic not provided 2016-07-26 criteria provided, single submitter clinical testing The c.5557dupT pathogenic variant in the BRCA2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5557dupT variant causes a frameshift starting with codon Cysteine 1853, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Cys1853LeufsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5557dupT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.5557dupT as an expected pathogenic variant.
GeneKor MSA RCV000373216 SCV000821713 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing

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