ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7655_7658del (p.Ile2552fs) (rs80359669)

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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) RCV000113803 SCV000301186 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 RCV000113803 SCV000327705 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000479230 SCV000568484 pathogenic not provided 2016-08-31 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA2 is denoted c.7655_7658delTTAA at the cDNA level and p.Ile2552ThrfsX95 (I2552TfsX95) at the protein level. The normal sequence, with the bases that are deleted in braces, is TAAAAA[TTAA]CAGC. The deletion causes a frameshift which changes an Isoleucine to a Threonine at codon 2552, and creates a premature stop codon at position 95 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. Also reported as BRCA2 7883delTTAA using alternate nomenclature, this variant has been observed in at least one individual with early-onset breast cancer (Zhi 2002). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000479230 SCV001133913 pathogenic not provided 2019-07-09 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113803 SCV000147157 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496252 SCV000587901 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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