Submissions for variant NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs)

dbSNP: rs2137577594

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001825104	SCV002074329	likely pathogenic	Hereditary breast ovarian cancer syndrome	2022-01-19	criteria provided, single submitter	clinical testing	Variant summary: BRCA2 c.7933_7943delinsCTATTAGCA (p.Arg2645LeufsX16) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251304 control chromosomes. To our knowledge, no occurrence of c.7933_7943delinsCTATTAGCA in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics	RCV003475103	SCV004212922	likely pathogenic	Familial cancer of breast	2021-08-11	criteria provided, single submitter	clinical testing