rs755458782
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000312251.8(NAGPA):āc.252C>Gā(p.His84Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000404 in 1,505,860 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
ENST00000312251.8 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NAGPA | NM_016256.4 | c.252C>G | p.His84Gln | missense_variant | 2/10 | ENST00000312251.8 | NP_057340.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NAGPA | ENST00000312251.8 | c.252C>G | p.His84Gln | missense_variant | 2/10 | 1 | NM_016256.4 | ENSP00000310998 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000454 AC: 69AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000180 AC: 20AN: 110844Hom.: 0 AF XY: 0.000192 AC XY: 12AN XY: 62582
GnomAD4 exome AF: 0.000399 AC: 540AN: 1353642Hom.: 0 Cov.: 34 AF XY: 0.000405 AC XY: 270AN XY: 667270
GnomAD4 genome AF: 0.000453 AC: 69AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.000430 AC XY: 32AN XY: 74436
ClinVar
Submissions by phenotype
Stuttering, familial persistent, 2 Uncertain:1
Uncertain significance, no assertion criteria provided | literature only | OMIM | Nov 18, 2011 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at