4-79325271-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032693.3(NAA11):c.607G>A(p.Gly203Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,613,814 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict 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. G203R) has been classified as Uncertain significance.
Frequency
Consequence
NM_032693.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NAA11 | ENST00000286794.5 | c.607G>A | p.Gly203Ser | missense_variant | Exon 1 of 2 | 1 | NM_032693.3 | ENSP00000286794.4 | ||
NAA11 | ENST00000511542.1 | n.253G>A | non_coding_transcript_exon_variant | Exon 1 of 3 | 3 | ENSP00000422022.1 | ||||
NAA11 | ENST00000513733.1 | n.198G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248728Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134962
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461534Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727026
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152280Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74446
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.607G>A (p.G203S) alteration is located in exon 1 (coding exon 1) of the NAA11 gene. This alteration results from a G to A substitution at nucleotide position 607, causing the glycine (G) at amino acid position 203 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at