19-49461733-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_153329.4(ALDH16A1):c.692C>T(p.Ala231Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000205 in 1,609,826 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALDH16A1 | NM_153329.4 | c.692C>T | p.Ala231Val | missense_variant | 6/17 | ENST00000293350.9 | |
ALDH16A1 | NM_001145396.2 | c.692C>T | p.Ala231Val | missense_variant | 6/16 | ||
ALDH16A1 | XM_011526441.1 | c.605C>T | p.Ala202Val | missense_variant | 6/17 | ||
ALDH16A1 | XM_047438163.1 | c.605C>T | p.Ala202Val | missense_variant | 7/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH16A1 | ENST00000293350.9 | c.692C>T | p.Ala231Val | missense_variant | 6/17 | 1 | NM_153329.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000526 AC: 8AN: 152162Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000250 AC: 6AN: 239834Hom.: 0 AF XY: 0.0000383 AC XY: 5AN XY: 130524
GnomAD4 exome AF: 0.0000172 AC: 25AN: 1457664Hom.: 0 Cov.: 60 AF XY: 0.0000234 AC XY: 17AN XY: 724952
GnomAD4 genome ? AF: 0.0000526 AC: 8AN: 152162Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 25, 2023 | The c.692C>T (p.A231V) alteration is located in exon 6 (coding exon 6) of the ALDH16A1 gene. This alteration results from a C to T substitution at nucleotide position 692, causing the alanine (A) at amino acid position 231 to be replaced by a valine (V). 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