ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2995_2996delinsTA (p.Leu999Ter) (rs273899692)

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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) RCV000111976 SCV000299867 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000159910 SCV000210028 pathogenic not provided 2014-08-12 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.2995_2996delCTinsTA (CTA>TAA) at the cDNA level and p.Leu999Ter (L999X) at the protein level. The normal sequence, with the bases that are deleted and inserted in brackets, is TCTG[delCTinsTA]AGAG. The deletion and insertion creates a nonsense variant, which changes a Leucine to a premature stop codon. Although this variant has not, to our knowledge, been previously reported, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay, and is considered pathogenic.
Ambry Genetics RCV000164626 SCV000215290 pathogenic Hereditary cancer-predisposing syndrome 2015-11-11 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111976 SCV000325518 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111976 SCV000144601 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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