12-124947886-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032656.4(DHX37):c.3390C>A(p.Tyr1130Ter) variant causes a stop gained, splice region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032656.4 stop_gained, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DHX37 | NM_032656.4 | c.3390C>A | p.Tyr1130Ter | stop_gained, splice_region_variant | 27/27 | ENST00000308736.7 | NP_116045.2 | |
DHX37 | XM_005253590.4 | downstream_gene_variant | XP_005253647.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DHX37 | ENST00000308736.7 | c.3390C>A | p.Tyr1130Ter | stop_gained, splice_region_variant | 27/27 | 1 | NM_032656.4 | ENSP00000311135 | P1 | |
DHX37 | ENST00000544745.2 | c.*58C>A | 3_prime_UTR_variant | 23/23 | 1 | ENSP00000439009 | ||||
DHX37 | ENST00000507267.2 | n.534C>A | splice_region_variant, non_coding_transcript_exon_variant | 2/2 | 1 | |||||
DHX37 | ENST00000542400.5 | n.2004C>A | splice_region_variant, non_coding_transcript_exon_variant | 6/6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Mar 28, 2023 | Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation as the last 28 amino acids are lost; Has not been previously published as pathogenic or benign to our knowledge - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.