ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113803 SCV000147157 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
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
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.
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.
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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