GeneBe

CRYGC

crystallin gamma C, the group of Beta-gamma crystallins

Basic information

Region (hg38): 2:208128137-208129828

Previous symbols: [ "CRYG3" ]

Links

ENSG00000163254 ∙ NCBI:1420 ∙ OMIM:123680 ∙ HGNC:2410 ∙ Uniprot:P07315 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • cataract 2, multiple types (Strong), mode of inheritance: AD
  • cataract - microcornea syndrome (Supportive), mode of inheritance: AD
  • pulverulent cataract (Supportive), mode of inheritance: AD
  • early-onset nuclear cataract (Supportive), mode of inheritance: AD
  • early-onset lamellar cataract (Supportive), mode of inheritance: AD
  • cataract 2, multiple types (Definitive), mode of inheritance: AD
  • cataract 2, multiple types (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Cataract 2, multiple typesADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingOphthalmologic8190472; 10521291; 10914683; 12011157; 18587492; 18618005; 19204787; 22052681; 22876111

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CRYGC gene.

  • Nuclear_pulverulent_cataract (44 variants)
  • Inborn_genetic_diseases (27 variants)
  • not_provided (18 variants)
  • Cataract_2,_multiple_types (15 variants)
  • CRYGC-related_disorder (11 variants)
  • not_specified (2 variants)
  • Developmental_cataract (2 variants)
  • Usher_syndrome_type_2C (1 variants)
  • Cataract_2,_Coppock-like (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRYGC gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020989.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
3
clinvar
4
clinvar
 7
missense
5
clinvar
2
clinvar
36
clinvar
7
clinvar
2
clinvar
 52
nonsense
5
clinvar
7
clinvar
 12
start loss
0
frameshift
8
clinvar
3
clinvar
2
clinvar
 13
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total 18 12 40 10 6

Highest pathogenic variant AF is 0.0000204456

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CRYGCprotein_codingprotein_codingENST00000282141 31694
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.0006060.73912562401241257480.000493
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6041271091.160.000007791139
Missense in Polyphen2430.2910.79232351
Synonymous-0.6284842.81.120.00000269326
Loss of Function0.92969.010.6664.77e-787

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001220.000119
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.004480.00449
European (Non-Finnish)0.0001760.000176
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.0004890.000489

dbNSFP

Source: dbNSFP

Function
FUNCTION: Crystallins are the dominant structural components of the vertebrate eye lens.;
Disease
DISEASE: Cataract 2, multiple types (CTRCT2) [MIM:604307]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO:0000269|PubMed:10521291, ECO:0000269|PubMed:10914683, ECO:0000269|PubMed:12011157, ECO:0000269|PubMed:12601044, ECO:0000269|PubMed:18587492, ECO:0000269|PubMed:22052681, ECO:0000269|PubMed:22876111}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec
0.396

Intolerance Scores

loftool
0.465
rvis_EVS
0.33
rvis_percentile_EVS
73.27

Haploinsufficiency Scores

pHI
0.118
hipred
N
hipred_score
0.245
ghis
0.443

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.578

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Crygc
Phenotype
vision/eye phenotype;

Gene ontology

Biological process
visual perception
Cellular component
nucleus;cytoplasm
Molecular function
structural constituent of eye lens;protein binding