1-43447899-ATGTGTCTC-A
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_001365999.1(SZT2):c.9494_9501delTGTCTCTG(p.Val3165AlafsTer10) variant causes a frameshift change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001365999.1 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SZT2 | NM_001365999.1 | c.9494_9501delTGTCTCTG | p.Val3165AlafsTer10 | frameshift_variant | Exon 68 of 72 | ENST00000634258.3 | NP_001352928.1 | |
SZT2 | NM_015284.4 | c.9323_9330delTGTCTCTG | p.Val3108AlafsTer10 | frameshift_variant | Exon 67 of 71 | NP_056099.3 | ||
SZT2-AS1 | NR_046744.1 | n.568_575delGAGACACA | non_coding_transcript_exon_variant | Exon 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Pathogenic:1
This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This sequence change creates a premature translational stop signal (p.Val3108Alafs*10) in the SZT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SZT2 are known to be pathogenic (PMID: 23932106, 27248490, 28556953). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.