ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs)

dbSNP: rs1862009020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262451 SCV001440330 likely pathogenic Paragangliomas 2 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004659450 SCV005161186 likely pathogenic Hereditary cancer-predisposing syndrome 2024-05-09 criteria provided, single submitter clinical testing The c.42_45delTGCT variant, located in coding exon 2 of the SDHAF2 gene, results from a deletion of 4 nucleotides at nucleotide positions 42 to 45, causing a translational frameshift with a predicted alternate stop codon (p.A15Cfs*13). The predicted stop codon occurs in the 5’ end of theSDHAF2 gene. Premature termination codons in the 5’ end of a gene have been reported to escape nonsense-mediated mRNAdecay and/or lead to re-initiation (Rivas et al. Science. 2015 May 8;348(6235):666-9; Lindeboom et al. Nat Genet. 2016 Oct;48(10):1112-8; Rhee et al. Sci Rep. 2017 May 10;7(1):1653). Direct evidence for this alteration is unavailable, however premature termination codons are typically deleterious in nature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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