rs144811342
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_001647.4(APOD):āc.166T>Gā(p.Phe56Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000527 in 1,614,094 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001647.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00277 AC: 422AN: 152112Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000668 AC: 168AN: 251430Hom.: 0 AF XY: 0.000515 AC XY: 70AN XY: 135890
GnomAD4 exome AF: 0.000291 AC: 425AN: 1461864Hom.: 0 Cov.: 33 AF XY: 0.000232 AC XY: 169AN XY: 727238
GnomAD4 genome AF: 0.00279 AC: 425AN: 152230Hom.: 2 Cov.: 32 AF XY: 0.00267 AC XY: 199AN XY: 74430
ClinVar
Submissions by phenotype
APOD-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at