NM_032604.4:c.197C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032604.4(ABHD1):c.197C>T(p.Thr66Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000428 in 1,614,024 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032604.4 missense
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 |
---|---|---|---|---|---|---|---|---|
ABHD1 | NM_032604.4 | c.197C>T | p.Thr66Met | missense_variant | Exon 2 of 9 | ENST00000316470.9 | NP_115993.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000795 AC: 20AN: 251490Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135918
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461892Hom.: 0 Cov.: 35 AF XY: 0.0000399 AC XY: 29AN XY: 727246
GnomAD4 genome AF: 0.000125 AC: 19AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.000162 AC XY: 12AN XY: 74298
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.197C>T (p.T66M) alteration is located in exon 2 (coding exon 2) of the ABHD1 gene. This alteration results from a C to T substitution at nucleotide position 197, causing the threonine (T) at amino acid position 66 to be replaced by a methionine (M). 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