7-99968346-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001185.4(AZGP1):c.422G>A(p.Gly141Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000868 in 1,613,506 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001185.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AZGP1 | NM_001185.4 | c.422G>A | p.Gly141Glu | missense_variant | Exon 3 of 4 | ENST00000292401.9 | NP_001176.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AZGP1 | ENST00000292401.9 | c.422G>A | p.Gly141Glu | missense_variant | Exon 3 of 4 | 1 | NM_001185.4 | ENSP00000292401.4 | ||
AZGP1 | ENST00000411734.1 | c.413G>A | p.Gly138Glu | missense_variant | Exon 3 of 3 | 1 | ENSP00000396093.1 | |||
AZGP1 | ENST00000419575.1 | c.139-169G>A | intron_variant | Intron 1 of 2 | 3 | ENSP00000389942.1 | ||||
AZGP1 | ENST00000477251.1 | n.418G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151698Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251416Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135886
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461808Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 727198
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151698Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74030
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.422G>A (p.G141E) alteration is located in exon 3 (coding exon 3) of the AZGP1 gene. This alteration results from a G to A substitution at nucleotide position 422, causing the glycine (G) at amino acid position 141 to be replaced by a glutamic acid (E). 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