ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5206C>T (p.Gln1736Ter)

dbSNP: rs886037802
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Total submissions: 4
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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) RCV000661397 SCV000783671 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University RCV000240691 SCV000265909 pathogenic Breast neoplasm 2015-11-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000546284 SCV000635436 pathogenic Hereditary breast ovarian cancer syndrome 2017-06-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1736*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 27257965). ClinVar contains an entry for this variant (Variation ID: 224444). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Urology, Hospital Clinic de Barcelona RCV003332142 SCV004040599 pathogenic Malignant tumor of urinary bladder no assertion criteria provided research

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