ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.483_484TG[1] (p.Val162fs) (rs80357708)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162880 SCV000213367 pathogenic Hereditary cancer-predisposing syndrome 2018-01-30 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)
Breast Cancer Information Core (BIC) (BRCA1) RCV000077588 SCV000145597 pathogenic Breast-ovarian cancer, familial 1 2002-06-20 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077588 SCV000326052 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077588 SCV000299463 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000781011 SCV000918761 pathogenic Hereditary breast and ovarian cancer syndrome 2017-12-18 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.485_486delTG (p.Val162GlufsX19) 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. p.Gln563X, p.Lys654X, p.Glu908X, etc.). This variant is absent in 277220 control chromosomes (gnomAD). This variant has been reported in multiple individuals with HBOC in literature (Judkins_2005, Borg_2010, El Saghir_2015). In addition, several clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. Taken together, this variant is classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077588 SCV000109391 pathogenic Breast-ovarian cancer, familial 1 2012-04-12 no assertion criteria provided clinical testing

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