9-38396031-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000692.5(ALDH1B1):c.283C>T(p.Arg95Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000821 in 1,461,556 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R95Q) has been classified as Likely benign.
Frequency
Consequence
NM_000692.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALDH1B1 | NM_000692.5 | c.283C>T | p.Arg95Trp | missense_variant | 2/2 | ENST00000377698.4 | |
ALDH1B1 | XM_011517802.3 | c.424C>T | p.Arg142Trp | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH1B1 | ENST00000377698.4 | c.283C>T | p.Arg95Trp | missense_variant | 2/2 | 1 | NM_000692.5 | P1 | |
ALDH1B1 | ENST00000635162.1 | c.283C>T | p.Arg95Trp | missense_variant | 3/3 | 3 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250796Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135604
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461556Hom.: 0 Cov.: 100 AF XY: 0.00000963 AC XY: 7AN XY: 727088
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Apr 18, 2014 | p.Arg95Trp (CGG>TGG): c.283 C>T in exon 2 of the ALDH1B1 gene (NM_000692.4). The R95W variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R95W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at