rs7166994
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001363711.2(DUOX2):c.429C>A(p.Asp143Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D143Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_001363711.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DUOX2 | NM_001363711.2 | c.429C>A | p.Asp143Glu | missense_variant | 5/34 | ENST00000389039.11 | |
DUOX2 | NM_014080.5 | c.429C>A | p.Asp143Glu | missense_variant | 5/34 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DUOX2 | ENST00000389039.11 | c.429C>A | p.Asp143Glu | missense_variant | 5/34 | 1 | NM_001363711.2 | P4 | |
DUOX2 | ENST00000603300.1 | c.429C>A | p.Asp143Glu | missense_variant | 5/34 | 1 | A1 | ||
DUOX2 | ENST00000558383.1 | n.472C>A | non_coding_transcript_exon_variant | 4/17 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 28
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 28
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at