chr11-67663274-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001393402.2(ALDH3B2):c.1099G>A(p.Asp367Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,613,742 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001393402.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ALDH3B2 | NM_001393402.2 | c.1099G>A | p.Asp367Asn | missense_variant | Exon 10 of 10 | ENST00000673966.2 | NP_001380331.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ALDH3B2 | ENST00000673966.2 | c.1099G>A | p.Asp367Asn | missense_variant | Exon 10 of 10 | NM_001393402.2 | ENSP00000501254.1 | |||
ALDH3B2 | ENST00000530069.6 | c.1099G>A | p.Asp367Asn | missense_variant | Exon 10 of 10 | 1 | ENSP00000431595.1 | |||
ALDH3B2 | ENST00000349015.7 | c.1099G>A | p.Asp367Asn | missense_variant | Exon 10 of 10 | 5 | ENSP00000255084.3 | |||
ALDH3B2 | ENST00000531248.1 | c.284G>A | p.Arg95Gln | missense_variant | Exon 3 of 3 | 5 | ENSP00000435476.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152178Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250706Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135430
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461564Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 727068
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152178Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1099G>A (p.D367N) alteration is located in exon 10 (coding exon 8) of the ALDH3B2 gene. This alteration results from a G to A substitution at nucleotide position 1099, causing the aspartic acid (D) at amino acid position 367 to be replaced by an asparagine (N). 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