ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter) (rs80357021)

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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) RCV000031140 SCV000300056 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 RCV000162870 SCV000213357 pathogenic Hereditary cancer-predisposing syndrome 2018-12-06 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Integrated Genetics/Laboratory Corporation of America RCV000587615 SCV000699096 pathogenic Hereditary breast and ovarian cancer syndrome 2017-08-22 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.4015G>T (p.Glu1339X) 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.4035delA (p.Glu1346fsX20), c.4041_4042delAG (p.Gly1348fsX7), and c.4065_4068delTCAA (p.Asn1355fsX10)). This variant is absent in 121374 control chromosomes, suggesting that it is not a common, benign variant. The variant of interest has been reported in affected individuals via publications (Judkins_2005 and Mullineaux_2003). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031140 SCV000053739 pathogenic Breast-ovarian cancer, familial 1 2008-11-17 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031140 SCV000144935 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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