rs4646750
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_012190.4(ALDH1L1):c.2434A>G(p.Ile812Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0691 in 1,613,716 control chromosomes in the GnomAD database, including 4,282 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_012190.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALDH1L1 | NM_012190.4 | c.2434A>G | p.Ile812Val | missense_variant | 21/23 | ENST00000393434.7 | |
ALDH1L1-AS1 | NR_046602.1 | n.252-724T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH1L1 | ENST00000393434.7 | c.2434A>G | p.Ile812Val | missense_variant | 21/23 | 1 | NM_012190.4 | P1 | |
ALDH1L1-AS1 | ENST00000512384.1 | n.252-724T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0785 AC: 11943AN: 152070Hom.: 552 Cov.: 34
GnomAD3 exomes AF: 0.0589 AC: 14798AN: 251444Hom.: 557 AF XY: 0.0576 AC XY: 7832AN XY: 135890
GnomAD4 exome AF: 0.0681 AC: 99603AN: 1461528Hom.: 3725 Cov.: 30 AF XY: 0.0669 AC XY: 48641AN XY: 727074
GnomAD4 genome ? AF: 0.0786 AC: 11965AN: 152188Hom.: 557 Cov.: 34 AF XY: 0.0765 AC XY: 5695AN XY: 74426
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at