rs1801689
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000042.3(APOH):āc.973T>Gā(p.Cys325Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0281 in 1,613,586 control chromosomes in the GnomAD database, including 770 homozygotes. In-silico tool predicts 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_000042.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APOH | NM_000042.3 | c.973T>G | p.Cys325Gly | missense_variant | Exon 7 of 8 | ENST00000205948.11 | NP_000033.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0230 AC: 3503AN: 152188Hom.: 58 Cov.: 32
GnomAD3 exomes AF: 0.0245 AC: 6137AN: 250782Hom.: 120 AF XY: 0.0249 AC XY: 3369AN XY: 135542
GnomAD4 exome AF: 0.0286 AC: 41833AN: 1461280Hom.: 713 Cov.: 31 AF XY: 0.0287 AC XY: 20879AN XY: 726976
GnomAD4 genome AF: 0.0230 AC: 3499AN: 152306Hom.: 57 Cov.: 32 AF XY: 0.0220 AC XY: 1636AN XY: 74474
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at