ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8323dup (p.Met2775fs) (rs276174904)

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Total submissions: 6
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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) RCV000113901 SCV000301264 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 RCV000113901 SCV000327861 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000113901 SCV000605649 pathogenic Breast-ovarian cancer, familial 2 2015-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000520737 SCV000617960 pathogenic not provided 2018-05-29 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.8323dupA at the cDNA level and p.Met2775AsnfsX7 (M2775NfsX7) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 8551dupA. The normal sequence, with the base that is duplicated in brackets, is TCTT[dupA]TGTT. The duplication causes a frameshift which changes a Methionine to an Asparagine at codon 2775, and creates a premature stop codon at position 7 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113901 SCV000147318 pathogenic Breast-ovarian cancer, familial 2 2009-09-24 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496500 SCV000587945 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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