chr10-27504287-C-A
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The ENST00000621805(RAB18):c.-83C>A variant causes a 5 prime UTR change. The variant allele was found at a frequency of 0.0011 in 1,393,890 control chromosomes in the GnomAD database, including 18 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
ENST00000621805 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00561 AC: 854AN: 152240Hom.: 11 Cov.: 33
GnomAD3 exomes AF: 0.00130 AC: 194AN: 148774Hom.: 1 AF XY: 0.00104 AC XY: 82AN XY: 78774
GnomAD4 exome AF: 0.000547 AC: 679AN: 1241532Hom.: 7 Cov.: 18 AF XY: 0.000481 AC XY: 298AN XY: 619476
GnomAD4 genome AF: 0.00562 AC: 856AN: 152358Hom.: 11 Cov.: 33 AF XY: 0.00541 AC XY: 403AN XY: 74502
ClinVar
Submissions by phenotype
not provided Benign:2
- -
- -
Warburg micro syndrome 3 Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at