rs1065212
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000618911.4(NOP16):āc.548A>Gā(p.Glu183Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0897 in 1,611,914 control chromosomes in the GnomAD database, including 7,392 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/14 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000618911.4 missense
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 |
---|---|---|---|---|---|---|---|
NOP16 | NM_016391.8 | c.*99A>G | 3_prime_UTR_variant | 5/5 | ENST00000614830.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOP16 | ENST00000614830.5 | c.*99A>G | 3_prime_UTR_variant | 5/5 | 1 | NM_016391.8 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.108 AC: 16395AN: 151850Hom.: 1071 Cov.: 32
GnomAD3 exomes AF: 0.0821 AC: 20274AN: 246892Hom.: 1078 AF XY: 0.0817 AC XY: 10963AN XY: 134220
GnomAD4 exome AF: 0.0878 AC: 128246AN: 1459946Hom.: 6318 Cov.: 32 AF XY: 0.0868 AC XY: 63015AN XY: 726368
GnomAD4 genome ? AF: 0.108 AC: 16420AN: 151968Hom.: 1074 Cov.: 32 AF XY: 0.104 AC XY: 7745AN XY: 74268
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at