rs199689420
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152406.4(AFAP1L1):c.317G>A(p.Arg106His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000291 in 1,613,898 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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_152406.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152176Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251274Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135796
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1461604Hom.: 0 Cov.: 30 AF XY: 0.0000289 AC XY: 21AN XY: 727110
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152294Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74470
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at