ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1097T>G (p.Leu366Ter)

dbSNP: rs886040345
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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) RCV000257220 SCV000323954 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-10-18 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 RCV000257220 SCV000326494 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001069551 SCV001234727 pathogenic Hereditary breast ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual with high risk of breast and/or ovarian cancer (PMID: 29446198). ClinVar contains an entry for this variant (Variation ID: 266609). This sequence change creates a premature translational stop signal (p.Leu366*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477877 SCV004219495 pathogenic not provided 2022-11-05 criteria provided, single submitter clinical testing This nonsense variant causes the premature termination of BRCA2 protein synthesis. In the published literature, the variant has been reported in an individual with a paraganglioma (PMID: 29625052 (2018)), as well as an individual with breast cancer (Quest internal data). Based on the available information, this variant is classified as pathogenic.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492023 SCV004240288 pathogenic Breast and/or ovarian cancer 2023-04-06 criteria provided, single submitter clinical testing

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