ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3908dup (p.Leu1303fs) (rs80357634)

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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) RCV000112210 SCV000300041 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 RCV000159923 SCV000210048 pathogenic not provided 2016-08-04 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA1 is denoted c.3908dupT at the cDNA level and p.Leu1303PhefsX27 (L1303FfsX27) at the protein level. The normal sequence, with the base that is duplicated in braces, is GAAT[T]GGAA. The duplication causes a frameshift which changes a Leucine to a Phenylalanine at codon 1303, and creates a premature stop codon at position 27 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.3908dupT was observed in one individual referred for clinical testing for inherited cancer (Susswein 2015). We consider this variant to be pathogenic.
Ambry Genetics RCV000165149 SCV000215860 pathogenic Hereditary cancer-predisposing syndrome 2014-07-08 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) RCV000112210 SCV000144915 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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