chr19-49461924-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_153329.4(ALDH16A1):c.800C>G(p.Ala267Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000114 in 1,574,694 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153329.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALDH16A1 | NM_153329.4 | c.800C>G | p.Ala267Gly | missense_variant | 7/17 | ENST00000293350.9 | |
ALDH16A1 | XM_011526441.1 | c.713C>G | p.Ala238Gly | missense_variant | 7/17 | ||
ALDH16A1 | XM_047438163.1 | c.713C>G | p.Ala238Gly | missense_variant | 8/18 | ||
ALDH16A1 | NM_001145396.2 | c.759+124C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH16A1 | ENST00000293350.9 | c.800C>G | p.Ala267Gly | missense_variant | 7/17 | 1 | NM_153329.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000265 AC: 4AN: 151186Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000529 AC: 1AN: 188870Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 102504
GnomAD4 exome AF: 0.00000983 AC: 14AN: 1423508Hom.: 0 Cov.: 35 AF XY: 0.00000851 AC XY: 6AN XY: 705268
GnomAD4 genome ? AF: 0.0000265 AC: 4AN: 151186Hom.: 0 Cov.: 33 AF XY: 0.0000271 AC XY: 2AN XY: 73830
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 25, 2023 | The c.800C>G (p.A267G) alteration is located in exon 7 (coding exon 7) of the ALDH16A1 gene. This alteration results from a C to G substitution at nucleotide position 800, causing the alanine (A) at amino acid position 267 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at