4-127982986-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001366038.3(ABHD18):c.-771C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000166 in 1,565,956 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001366038.3 5_prime_UTR_premature_start_codon_gain
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABHD18 | NM_001358451.3 | c.31C>T | p.Arg11Trp | missense_variant | Exon 2 of 13 | ENST00000645843.2 | NP_001345380.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABHD18 | ENST00000645843.2 | c.31C>T | p.Arg11Trp | missense_variant | Exon 2 of 13 | NM_001358451.3 | ENSP00000496010.1 | |||
ABHD18 | ENST00000444616.5 | c.31C>T | p.Arg11Trp | missense_variant | Exon 2 of 11 | 5 | ENSP00000397229.1 | |||
ABHD18 | ENST00000388795.10 | n.31C>T | non_coding_transcript_exon_variant | Exon 2 of 13 | 5 | ENSP00000373447.6 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152056Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000221 AC: 4AN: 180710Hom.: 0 AF XY: 0.0000105 AC XY: 1AN XY: 95556
GnomAD4 exome AF: 0.0000170 AC: 24AN: 1413900Hom.: 0 Cov.: 30 AF XY: 0.0000186 AC XY: 13AN XY: 698658
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152056Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74254
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.31C>T (p.R11W) alteration is located in exon 2 (coding exon 1) of the ABHD18 gene. This alteration results from a C to T substitution at nucleotide position 31, causing the arginine (R) at amino acid position 11 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at