ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2254_2257del (p.Asp752fs) (rs80359326)

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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) RCV000113027 SCV000300502 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000657223 SCV000778949 pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA2 is denoted c.2254_2257delGACT at the cDNA level and p.Asp752PhefsX19 (D752FfsX19) at the protein level. The normal sequence, with the bases that are deleted in brackets, is TACT[delGACT]TTCA. The deletion causes a frameshift which changes an Aspartic Acid to a Phenylalanine at codon 752, and creates a premature stop codon at position 19 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.2254_2257delGACT, reported BRCA2 2482delGACT using alternate nomenclature, has been in at least one individual with breast cancer (El-Harith el-HA 2002). We consider this variant to be pathogenic.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770716 SCV000902193 uncertain significance Breast and/or ovarian cancer 2017-07-27 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113027 SCV000146021 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496907 SCV000587626 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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