rs4301822
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001638.4(APOF):āc.932T>Cā(p.Ile311Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0308 in 1,613,896 control chromosomes in the GnomAD database, including 12,488 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001638.4 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 |
---|---|---|---|---|---|---|---|
APOF | NM_001638.4 | c.932T>C | p.Ile311Thr | missense_variant | 2/2 | ENST00000398189.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOF | ENST00000398189.4 | c.932T>C | p.Ile311Thr | missense_variant | 2/2 | 1 | NM_001638.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.161 AC: 24436AN: 152090Hom.: 6532 Cov.: 32
GnomAD3 exomes AF: 0.0421 AC: 10487AN: 249188Hom.: 2586 AF XY: 0.0325 AC XY: 4388AN XY: 135196
GnomAD4 exome AF: 0.0173 AC: 25226AN: 1461688Hom.: 5922 Cov.: 31 AF XY: 0.0149 AC XY: 10842AN XY: 727122
GnomAD4 genome ? AF: 0.161 AC: 24524AN: 152208Hom.: 6566 Cov.: 32 AF XY: 0.156 AC XY: 11600AN XY: 74426
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at