ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.516del (p.Gln172fs) (rs879254223)

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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) RCV000661308 SCV000783575 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000235461 SCV000293877 pathogenic not provided 2016-01-26 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.516delA at the cDNA level and p.Gln172HisfsX62 (Q172HfsX62) at the protein level. The normal sequence, with the base that is deleted in braces, is TACA[A]CCTC. The deletion causes a frameshift, which changes a Glutamine to a Histidine at codon 172, and creates a premature stop codon at position 62 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496367 SCV000591276 pathogenic Hereditary breast and ovarian cancer syndrome 2012-06-29 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496367 SCV000587060 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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