rs782413408
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003491.4(NAA10):c.577G>T(p.Ala193Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000182 in 1,098,100 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003491.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NAA10 | NM_003491.4 | c.577G>T | p.Ala193Ser | missense_variant | Exon 8 of 8 | ENST00000464845.6 | NP_003482.1 | |
NAA10 | NM_001256120.2 | c.559G>T | p.Ala187Ser | missense_variant | Exon 8 of 8 | NP_001243049.1 | ||
NAA10 | NM_001256119.2 | c.532G>T | p.Ala178Ser | missense_variant | Exon 7 of 7 | NP_001243048.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.00000547 AC: 1AN: 182925Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67435
GnomAD4 exome AF: 0.00000182 AC: 2AN: 1098100Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 1AN XY: 363454
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at