ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5054_5057dup (p.Val1687fs) (rs879254050)

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Total submissions: 2
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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) RCV000660970 SCV000783209 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 RCV000236593 SCV000293300 likely pathogenic not provided 2015-10-22 criteria provided, single submitter clinical testing This duplication of 4 nucleotides in BRCA1 is denoted c.5054_5057dupCTCA at the cDNA level and p.Val1687SerfsX9 (V1687SfsX9) at the protein level. The normal sequence, with the bases that are duplicated in braces, is ACTA[CTCA]TGTT. The duplication causes a frameshift, which changes a Valine to a Serine at codon 1687, and creates a premature stop codon at position 9 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. Based on the currently available information, we consider this duplication to be a likely pathogenic variant.

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