ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2273del (p.Ser758fs) (rs1064795934)

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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) RCV000661717 SCV000784023 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000486070 SCV000572207 pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.2273delG at the cDNA level and p.Ser758IlefsX14 (S758IfsX14) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 2501delG. The normal sequence, with the base that is deleted in braces, is GAAAA[G]TCTT. The deletion causes a frameshift which changes a Serine to an Isoleucine at codon 758, and creates a premature stop codon at position 14 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.

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