rs2886059
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_012190.4(ALDH1L1):c.988G>T(p.Val330Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.17 in 1,612,746 control chromosomes in the GnomAD database, including 25,629 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.988G>T | p.Val330Phe | missense_variant | 9/23 | ENST00000393434.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH1L1 | ENST00000393434.7 | c.988G>T | p.Val330Phe | missense_variant | 9/23 | 1 | NM_012190.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.217 AC: 32934AN: 151998Hom.: 4265 Cov.: 32
GnomAD3 exomes AF: 0.159 AC: 39687AN: 249486Hom.: 3669 AF XY: 0.154 AC XY: 20796AN XY: 134800
GnomAD4 exome AF: 0.165 AC: 240835AN: 1460628Hom.: 21354 Cov.: 32 AF XY: 0.162 AC XY: 117647AN XY: 726506
GnomAD4 genome ? AF: 0.217 AC: 32973AN: 152118Hom.: 4275 Cov.: 32 AF XY: 0.212 AC XY: 15797AN XY: 74356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at