chr12-109139959-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 3P and 12B. PM2PP2BP4_StrongBP6_Very_Strong
The NM_001093.4(ACACB):c.554G>A(p.Arg185His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000062 in 1,614,002 control chromosomes in the GnomAD database, including 1 homozygotes. 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 Likely benign (★★).
Frequency
Consequence
NM_001093.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACACB | NM_001093.4 | c.554G>A | p.Arg185His | missense_variant | 2/53 | ENST00000338432.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACACB | ENST00000338432.12 | c.554G>A | p.Arg185His | missense_variant | 2/53 | 1 | NM_001093.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000217 AC: 33AN: 152154Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000104 AC: 26AN: 250418Hom.: 0 AF XY: 0.0000812 AC XY: 11AN XY: 135430
GnomAD4 exome AF: 0.0000458 AC: 67AN: 1461730Hom.: 1 Cov.: 34 AF XY: 0.0000454 AC XY: 33AN XY: 727160
GnomAD4 genome ? AF: 0.000217 AC: 33AN: 152272Hom.: 0 Cov.: 33 AF XY: 0.000228 AC XY: 17AN XY: 74442
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2022 | ACACB: BP4 - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 07, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at