19-17300911-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024527.5(ABHD8):c.706G>A(p.Ala236Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000687 in 1,456,018 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024527.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABHD8 | NM_024527.5 | c.706G>A | p.Ala236Thr | missense_variant | Exon 2 of 5 | ENST00000247706.4 | NP_078803.4 | |
MRPL34 | NM_001400072.1 | c.-62-4920C>T | intron_variant | Intron 1 of 2 | NP_001387001.1 | |||
MRPL34 | NM_001400073.1 | c.-63+2534C>T | intron_variant | Intron 2 of 3 | NP_001387002.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABHD8 | ENST00000247706.4 | c.706G>A | p.Ala236Thr | missense_variant | Exon 2 of 5 | 1 | NM_024527.5 | ENSP00000247706.2 | ||
MRPL34 | ENST00000595444.1 | c.215-4920C>T | intron_variant | Intron 1 of 2 | 3 | ENSP00000472266.1 | ||||
MRPL34 | ENST00000600434.5 | c.-63+2534C>T | intron_variant | Intron 2 of 3 | 3 | ENSP00000469581.1 | ||||
ABHD8 | ENST00000593489.1 | c.*229G>A | downstream_gene_variant | 4 | ENSP00000468883.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000811 AC: 2AN: 246758Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 133918
GnomAD4 exome AF: 0.00000687 AC: 10AN: 1456018Hom.: 0 Cov.: 31 AF XY: 0.00000829 AC XY: 6AN XY: 723420
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.706G>A (p.A236T) alteration is located in exon 2 (coding exon 1) of the ABHD8 gene. This alteration results from a G to A substitution at nucleotide position 706, causing the alanine (A) at amino acid position 236 to be replaced by a threonine (T). 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