rs1127717
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_012190.4(ALDH1L1):āc.2378A>Gā(p.Asp793Gly) variant causes a missense change. The variant allele was found at a frequency of 0.202 in 1,613,530 control chromosomes in the GnomAD database, including 33,783 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 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.2378A>G | p.Asp793Gly | missense_variant | 21/23 | ENST00000393434.7 | |
ALDH1L1-AS1 | NR_046602.1 | n.252-668T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH1L1 | ENST00000393434.7 | c.2378A>G | p.Asp793Gly | missense_variant | 21/23 | 1 | NM_012190.4 | P1 | |
ALDH1L1-AS1 | ENST00000512384.1 | n.252-668T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.198 AC: 30131AN: 152116Hom.: 3099 Cov.: 33
GnomAD3 exomes AF: 0.185 AC: 46395AN: 251432Hom.: 4650 AF XY: 0.190 AC XY: 25832AN XY: 135886
GnomAD4 exome AF: 0.202 AC: 295779AN: 1461296Hom.: 30681 Cov.: 33 AF XY: 0.204 AC XY: 148333AN XY: 727016
GnomAD4 genome ? AF: 0.198 AC: 30142AN: 152234Hom.: 3102 Cov.: 33 AF XY: 0.194 AC XY: 14412AN XY: 74432
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at