ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.117T>A (p.Cys39Ter) (rs886040898)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574685 SCV000661102 pathogenic Hereditary cancer-predisposing syndrome 2016-12-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Fulgent Genetics,Fulgent Genetics RCV000763400 SCV000894126 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; FANCONI ANEMIA, COMPLEMENTATION GROUP S 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780971 SCV000918669 pathogenic Hereditary breast and ovarian cancer syndrome 2017-10-20 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.117T>A (p.Cys39X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant is absent in 245588 control chromosomes. The variant of interest has not, to our knowledge, been reported as a germline variant in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. However, another variant affecting the same codon, c.117_118delTG, and leading to the same change on the protein level, p. Cys39*, has been reported in multiple affected individuals in published reportes as causative variant and cited as "pathogenic" by reputable reputable databases/clinical diagnostic laboratorie. Taken together, this variant is classified as pathogenic.

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