chrX-153930078-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM1BP4_Moderate
The NM_003491.4(NAA10):c.617G>C(p.Gly206Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000662 in 1,208,919 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 4 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G206S) has been classified as Uncertain significance.
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NAA10 | NM_003491.4 | c.617G>C | p.Gly206Ala | missense_variant | 8/8 | ENST00000464845.6 | |
NAA10 | NM_001256120.2 | c.599G>C | p.Gly200Ala | missense_variant | 8/8 | ||
NAA10 | NM_001256119.2 | c.572G>C | p.Gly191Ala | missense_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NAA10 | ENST00000464845.6 | c.617G>C | p.Gly206Ala | missense_variant | 8/8 | 1 | NM_003491.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000903 AC: 1AN: 110789Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 32951
GnomAD4 exome AF: 0.00000637 AC: 7AN: 1098130Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 4AN XY: 363486
GnomAD4 genome ? AF: 0.00000903 AC: 1AN: 110789Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 32951
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Sep 01, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at