rs4894
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_182810.3(ATF4):āc.65A>Cā(p.Gln22Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.306 in 1,602,562 control chromosomes in the GnomAD database, including 76,463 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_182810.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATF4 | NM_182810.3 | c.65A>C | p.Gln22Pro | missense_variant | 2/3 | ENST00000674920.3 | |
ATF4 | NM_001675.4 | c.65A>C | p.Gln22Pro | missense_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATF4 | ENST00000674920.3 | c.65A>C | p.Gln22Pro | missense_variant | 2/3 | NM_182810.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.300 AC: 45644AN: 151966Hom.: 6968 Cov.: 32
GnomAD3 exomes AF: 0.305 AC: 75476AN: 247404Hom.: 11828 AF XY: 0.308 AC XY: 41255AN XY: 133820
GnomAD4 exome AF: 0.307 AC: 444611AN: 1450478Hom.: 69495 Cov.: 35 AF XY: 0.309 AC XY: 222852AN XY: 720102
GnomAD4 genome ? AF: 0.300 AC: 45664AN: 152084Hom.: 6968 Cov.: 32 AF XY: 0.300 AC XY: 22286AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at