chr5-170909700-G-A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_022897.5(RANBP17):c.529G>A(p.Ala177Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00254 in 1,594,748 control chromosomes in the GnomAD database, including 173 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_022897.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00256 AC: 382AN: 149022Hom.: 14 Cov.: 31
GnomAD3 exomes AF: 0.00523 AC: 1292AN: 247252Hom.: 36 AF XY: 0.00487 AC XY: 652AN XY: 133846
GnomAD4 exome AF: 0.00254 AC: 3671AN: 1445622Hom.: 159 Cov.: 27 AF XY: 0.00248 AC XY: 1783AN XY: 719988
GnomAD4 genome AF: 0.00255 AC: 381AN: 149126Hom.: 14 Cov.: 31 AF XY: 0.00310 AC XY: 225AN XY: 72646
ClinVar
Submissions by phenotype
RANBP17-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