20-63861899-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_080622.4(ABHD16B):c.359C>T(p.Thr120Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000183 in 1,585,288 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T120P) has been classified as Uncertain significance.
Frequency
Consequence
NM_080622.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151514Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000969 AC: 2AN: 206420Hom.: 0 AF XY: 0.00000863 AC XY: 1AN XY: 115842
GnomAD4 exome AF: 0.0000181 AC: 26AN: 1433774Hom.: 0 Cov.: 32 AF XY: 0.0000211 AC XY: 15AN XY: 712264
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151514Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 73996
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.359C>T (p.T120M) alteration is located in exon 1 (coding exon 1) of the ABHD16B gene. This alteration results from a C to T substitution at nucleotide position 359, causing the threonine (T) at amino acid position 120 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