chr3-94049514-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001174150.2(ARL13B):c.1133C>T(p.Pro378Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000025 in 1,598,288 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. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P378A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001174150.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARL13B | NM_001174150.2 | c.1133C>T | p.Pro378Leu | missense_variant | 8/10 | ENST00000394222.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARL13B | ENST00000394222.8 | c.1133C>T | p.Pro378Leu | missense_variant | 8/10 | 1 | NM_001174150.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000661 AC: 1AN: 151274Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1447014Hom.: 0 Cov.: 28 AF XY: 0.00000278 AC XY: 2AN XY: 720514
GnomAD4 genome AF: 0.00000661 AC: 1AN: 151274Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 73816
ClinVar
Submissions by phenotype
Joubert syndrome 8 Uncertain:1
Uncertain significance, criteria provided, single submitter | research | Genomic Research Center, Shahid Beheshti University of Medical Sciences | Jan 01, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at