ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.130del (p.Cys44fs) (rs80357951)

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Total submissions: 6
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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) RCV000077485 SCV000299408 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077485 SCV000325008 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000485954 SCV000566442 pathogenic not provided 2015-05-05 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.130delT at the cDNA level and p.Cys44AlafsX6 (C44AfsX6) at the protein level. The normal sequence, with the base that is deleted in braces, is ATTT[T]GCAA. The deletion causes a frameshift, which changes a Cysteine to an Alanine at codon 44, and creates a premature stop codon at position 6 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077485 SCV000109283 pathogenic Breast-ovarian cancer, familial 1 2012-03-28 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077485 SCV000144398 pathogenic Breast-ovarian cancer, familial 1 1999-06-21 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496885 SCV000587016 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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