rs2228093
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_000692.5(ALDH1B1):āc.257C>Gā(p.Ala86Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000062 in 1,613,502 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A86V) has been classified as Benign.
Frequency
Consequence
NM_000692.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALDH1B1 | NM_000692.5 | c.257C>G | p.Ala86Gly | missense_variant | 2/2 | ENST00000377698.4 | |
ALDH1B1 | XM_011517802.3 | c.398C>G | p.Ala133Gly | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH1B1 | ENST00000377698.4 | c.257C>G | p.Ala86Gly | missense_variant | 2/2 | 1 | NM_000692.5 | P1 | |
ALDH1B1 | ENST00000635162.1 | c.257C>G | p.Ala86Gly | missense_variant | 3/3 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152138Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250432Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135472
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461364Hom.: 0 Cov.: 101 AF XY: 0.00000275 AC XY: 2AN XY: 727020
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152138Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at