13-108229541-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The ENST00000375898.4(ABHD13):c.323G>A(p.Gly108Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000775 in 1,613,208 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000375898.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABHD13 | NM_032859.3 | c.323G>A | p.Gly108Glu | missense_variant | 2/2 | ENST00000375898.4 | NP_116248.2 | |
ABHD13 | XM_011521128.4 | c.323G>A | p.Gly108Glu | missense_variant | 2/2 | XP_011519430.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABHD13 | ENST00000375898.4 | c.323G>A | p.Gly108Glu | missense_variant | 2/2 | 1 | NM_032859.3 | ENSP00000365063 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151986Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250606Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135460
GnomAD4 exome AF: 0.0000828 AC: 121AN: 1461222Hom.: 0 Cov.: 32 AF XY: 0.0000770 AC XY: 56AN XY: 726900
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151986Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74266
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 16, 2021 | The c.323G>A (p.G108E) alteration is located in exon 2 (coding exon 1) of the ABHD13 gene. This alteration results from a G to A substitution at nucleotide position 323, causing the glycine (G) at amino acid position 108 to be replaced by a glutamic acid (E). 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