ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5276del (p.Lys1759fs) (rs80357732)

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Total submissions: 3
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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) RCV000241091 SCV000300233 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 RCV000486029 SCV000566545 pathogenic not provided 2015-05-07 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.5276delA at the cDNA level and p.Lys1759ArgfsX6 (K1759RfsX6) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 5395delA. The normal sequence, with the base that is deleted in braces, is AGAA[A]GGTA. The deletion causes a frameshift, which changes a Lysine to an Arginine at codon 1759, 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.
Breast Cancer Information Core (BIC) (BRCA1) RCV000241091 SCV000145421 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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