NM_003491.4:c.*39A>G
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 10P and 1B. PM2PP5_Very_StrongBP4
The NM_003491.4(NAA10):c.*39A>G variant causes a 3 prime UTR 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. Variant has been reported in ClinVar as Likely pathogenic (★★).
Frequency
Consequence
NM_003491.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NAA10 | NM_003491.4 | c.*39A>G | 3_prime_UTR_variant | Exon 8 of 8 | ENST00000464845.6 | NP_003482.1 | ||
NAA10 | NM_001256120.2 | c.*39A>G | 3_prime_UTR_variant | Exon 8 of 8 | NP_001243049.1 | |||
NAA10 | NM_001256119.2 | c.*39A>G | 3_prime_UTR_variant | Exon 7 of 7 | NP_001243048.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome Cov.: 22
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
Microphthalmia, syndromic 1 Pathogenic:2
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not provided Pathogenic:1
Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16114045, 30842225) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at