ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.787+61_787+92del (rs886039501)

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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) RCV000661092 SCV000783339 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 RCV000255669 SCV000322173 pathogenic not provided 2015-09-29 criteria provided, single submitter clinical testing This deletion of 32 nucleotides is denoted BRCA1 c.848_879del32 at the cDNA level and p.Leu283Ter (L283X) at the protein level. The surrounding sequence is TCAT[del32]AAAG. The deletion creates a nonsense variant, which changes a Leucine to a premature stop codon. Although this variant has not been previously reported to our knowledge, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay, and is considered pathogenic.

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