rs368788993
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_ModeratePP5_Moderate
The ENST00000265602.11(AHI1):c.2705T>A(p.Val902Asp) variant causes a missense change. The variant allele was found at a frequency of 0.00000248 in 1,610,686 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 Pathogenic (★). Synonymous variant affecting the same amino acid position (i.e. V902V) has been classified as Likely benign.
Frequency
Consequence
ENST00000265602.11 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AHI1 | NM_001134831.2 | c.2705T>A | p.Val902Asp | missense_variant | 20/29 | ENST00000265602.11 | NP_001128303.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AHI1 | ENST00000265602.11 | c.2705T>A | p.Val902Asp | missense_variant | 20/29 | 1 | NM_001134831.2 | ENSP00000265602 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151644Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000406 AC: 1AN: 246566Hom.: 0 AF XY: 0.00000747 AC XY: 1AN XY: 133820
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459042Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 2AN XY: 725786
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151644Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74084
ClinVar
Submissions by phenotype
Joubert syndrome 3 Pathogenic:1
Pathogenic, criteria provided, single submitter | research | UW Hindbrain Malformation Research Program, University of Washington | Feb 23, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at