ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3964A>T (p.Lys1322Ter) (rs80357343)

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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) RCV000112218 SCV000300047 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000563165 SCV000660947 pathogenic Hereditary cancer-predisposing syndrome 2016-10-21 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)
Integrated Genetics/Laboratory Corporation of America RCV000590774 SCV000699089 likely pathogenic Hereditary breast and ovarian cancer syndrome 2017-02-13 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3964A>T (p.Lys1322X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3972_3974delinsAA, c.4035delA, c.4041_4042delAG, c.4065_4068delTCAA, c.4096+3A>G). Mutation Taster predicts a damaging outcome for this variant. This variant is absent in 121396 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112218 SCV000144926 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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