12-111692741-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_025247.6(ACAD10):c.32G>A(p.Arg11His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000126 in 1,614,118 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025247.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACAD10 | NM_025247.6 | c.32G>A | p.Arg11His | missense_variant | 2/21 | ENST00000313698.9 | NP_079523.3 | |
ACAD10 | NM_001136538.2 | c.32G>A | p.Arg11His | missense_variant | 2/22 | NP_001130010.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACAD10 | ENST00000313698.9 | c.32G>A | p.Arg11His | missense_variant | 2/21 | 1 | NM_025247.6 | ENSP00000325137.5 |
Frequencies
GnomAD3 genomes AF: 0.000164 AC: 25AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000677 AC: 17AN: 251132Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135700
GnomAD4 exome AF: 0.000122 AC: 179AN: 1461850Hom.: 0 Cov.: 31 AF XY: 0.000118 AC XY: 86AN XY: 727218
GnomAD4 genome AF: 0.000164 AC: 25AN: 152268Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74448
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 11, 2023 | The c.32G>A (p.R11H) alteration is located in exon 2 (coding exon 1) of the ACAD10 gene. This alteration results from a G to A substitution at nucleotide position 32, causing the arginine (R) at amino acid position 11 to be replaced by a histidine (H). 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