X-153931677-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003491.4(NAA10):c.386+394G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.245 in 885,635 control chromosomes in the GnomAD database, including 26,364 homozygotes. There are 65,388 hemizygotes in GnomAD. In-silico tool predicts 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 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NAA10 | NM_003491.4 | c.386+394G>A | intron_variant | ENST00000464845.6 | |||
NAA10 | NM_001256119.2 | c.341+639G>A | intron_variant | ||||
NAA10 | NM_001256120.2 | c.368+394G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NAA10 | ENST00000464845.6 | c.386+394G>A | intron_variant | 1 | NM_003491.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.393 AC: 43885AN: 111711Hom.: 8290 Cov.: 24 AF XY: 0.390 AC XY: 13207AN XY: 33907
GnomAD4 exome AF: 0.224 AC: 173051AN: 773871Hom.: 18068 Cov.: 30 AF XY: 0.228 AC XY: 52133AN XY: 228605
GnomAD4 genome AF: 0.393 AC: 43942AN: 111764Hom.: 8296 Cov.: 24 AF XY: 0.390 AC XY: 13255AN XY: 33970
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at