3-50297313-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001200016.2(NAA80):āc.151G>Cā(p.Glu51Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000629 in 1,606,676 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001200016.2 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 |
---|---|---|---|---|---|---|---|
NAA80 | NM_001200016.2 | c.151G>C | p.Glu51Gln | missense_variant | 2/2 | ENST00000443094.3 | |
HYAL3 | NM_003549.4 | c.-17-1694G>C | intron_variant | ENST00000336307.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NAA80 | ENST00000443094.3 | c.151G>C | p.Glu51Gln | missense_variant | 2/2 | 1 | NM_001200016.2 | A2 | |
HYAL3 | ENST00000336307.6 | c.-17-1694G>C | intron_variant | 1 | NM_003549.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000123 AC: 3AN: 243280Hom.: 0 AF XY: 0.0000228 AC XY: 3AN XY: 131844
GnomAD4 exome AF: 0.0000612 AC: 89AN: 1454504Hom.: 0 Cov.: 31 AF XY: 0.0000650 AC XY: 47AN XY: 722846
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74330
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at