chr19-49453359-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_153329.4(ALDH16A1):c.28G>C(p.Ala10Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000257 in 1,557,906 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.28G>C | p.Ala10Pro | missense_variant | 1/17 | ENST00000293350.9 | |
ALDH16A1 | NM_001145396.2 | c.28G>C | p.Ala10Pro | missense_variant | 1/16 | ||
ALDH16A1 | XM_047438163.1 | c.-171G>C | 5_prime_UTR_variant | 1/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH16A1 | ENST00000293350.9 | c.28G>C | p.Ala10Pro | missense_variant | 1/17 | 1 | NM_153329.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000138 AC: 2AN: 144922Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000163 AC: 3AN: 184062Hom.: 0 AF XY: 0.00000997 AC XY: 1AN XY: 100254
GnomAD4 exome AF: 0.00000142 AC: 2AN: 1412984Hom.: 0 Cov.: 30 AF XY: 0.00000143 AC XY: 1AN XY: 699990
GnomAD4 genome ? AF: 0.0000138 AC: 2AN: 144922Hom.: 0 Cov.: 34 AF XY: 0.0000141 AC XY: 1AN XY: 70674
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 01, 2024 | The c.28G>C (p.A10P) alteration is located in exon 1 (coding exon 1) of the ALDH16A1 gene. This alteration results from a G to C substitution at nucleotide position 28, causing the alanine (A) at amino acid position 10 to be replaced by a proline (P). 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