ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3273_3276del (p.Leu1091fs) (rs80359382)

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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) RCV000113157 SCV000300610 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000484736 SCV000570329 pathogenic not provided 2016-05-12 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRCA2 is denoted c.3273_3276delATTT at the cDNA level and p.Leu1091PhefsX12 (L1091FfsX12) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 3501del4. The normal sequence, with the bases that are deleted in braces, is TGTT[ATTT]TCCA. The deletion causes a frameshift which changes a Leucine to a Phenylalanine at codon 1091 and creates a premature stop codon at position 12 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.
Integrated Genetics/Laboratory Corporation of America RCV000589349 SCV000694686 likely pathogenic Hereditary breast and ovarian cancer syndrome 2016-01-12 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113157 SCV000146206 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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