12-112043779-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_024953.4(NAA25):c.2096G>T(p.Gly699Val) variant causes a missense 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. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024953.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NAA25 | NM_024953.4 | c.2096G>T | p.Gly699Val | missense_variant | Exon 18 of 24 | ENST00000261745.9 | NP_079229.2 | |
NAA25 | XM_006719606.3 | c.2012G>T | p.Gly671Val | missense_variant | Exon 18 of 24 | XP_006719669.1 | ||
NAA25 | XM_047429557.1 | c.1688G>T | p.Gly563Val | missense_variant | Exon 15 of 21 | XP_047285513.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2096G>T (p.G699V) alteration is located in exon 18 (coding exon 18) of the NAA25 gene. This alteration results from a G to T substitution at nucleotide position 2096, causing the glycine (G) at amino acid position 699 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.