rs104893736
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PM1PM2PM5PP3_StrongPP5_Moderate
The NM_017541.4(CRYGS):c.53G>T(p.Gly18Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G18D) has been classified as Pathogenic.
Frequency
Consequence
NM_017541.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRYGS | NM_017541.4 | c.53G>T | p.Gly18Val | missense_variant | 2/3 | ENST00000307944.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRYGS | ENST00000307944.6 | c.53G>T | p.Gly18Val | missense_variant | 2/3 | 1 | NM_017541.4 | P1 | |
CRYGS | ENST00000460288.1 | n.955G>T | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
CRYGS | ENST00000392499.6 | c.53G>T | p.Gly18Val | missense_variant | 3/4 | 2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Cataract 20 multiple types Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Sep 01, 2005 | - - |
Retinitis pigmentosa Pathogenic:1
Pathogenic, criteria provided, single submitter | clinical testing | Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | Jul 25, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at