13-110524129-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_017817.3(RAB20):c.241G>T(p.Asp81Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000343 in 1,459,284 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017817.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000809 AC: 2AN: 247368Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134156
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1459284Hom.: 0 Cov.: 85 AF XY: 0.00000138 AC XY: 1AN XY: 726044
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.241G>T (p.D81Y) alteration is located in exon 2 (coding exon 2) of the RAB20 gene. This alteration results from a G to T substitution at nucleotide position 241, causing the aspartic acid (D) at amino acid position 81 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at