CRYBG2

crystallin beta-gamma domain containing 2, the group of Beta-gamma crystallin domain containing

Basic information

Region (hg38): 1:26321698-26360080

Previous symbols: [ "AIM1L" ]

Links

ENSG00000176092 ∙ NCBI:55057 ∙ OMIM:619765 ∙ HGNC:17295 ∙ Uniprot:Q8N1P7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CRYBG2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRYBG2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				11		11
missense			167	13	1	181
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	167	24	1

Variants in CRYBG2

This is a list of pathogenic ClinVar variants found in the CRYBG2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-26321976-C-T		not specified	Uncertain significance (Nov 03, 2023)
1-26322002-C-T		not specified	Uncertain significance (Jan 23, 2024)
1-26322014-G-A		not specified	Likely benign (Dec 14, 2023)
1-26322021-A-G		not specified	Uncertain significance (Jul 26, 2021)
1-26322039-G-A		not specified	Conflicting classifications of pathogenicity (Sep 27, 2024)
1-26322048-C-T		not specified	Uncertain significance (Nov 09, 2023)
1-26322050-C-T		not specified	Uncertain significance (Sep 27, 2024)
1-26322051-G-A		not specified	Uncertain significance (Feb 05, 2024)
1-26322170-C-T		not specified	Uncertain significance (May 04, 2023)
1-26322193-A-G		not specified	Uncertain significance (May 10, 2023)
1-26322226-C-T		not specified	Uncertain significance (Feb 16, 2023)
1-26322238-C-T		not specified	Uncertain significance (Apr 29, 2024)
1-26322247-C-T		not specified	Uncertain significance (Jun 13, 2023)
1-26322248-G-A		not specified	Uncertain significance (Jan 29, 2024)
1-26322254-C-T		not specified	Uncertain significance (Dec 08, 2023)
1-26324154-G-C		not specified	Uncertain significance (Dec 14, 2022)
1-26324186-A-G		not specified	Uncertain significance (Aug 17, 2022)
1-26324207-G-A		not specified	Uncertain significance (Sep 01, 2024)
1-26324211-C-T		not specified	Uncertain significance (Oct 08, 2024)
1-26324220-C-G		not specified	Uncertain significance (Nov 14, 2023)
1-26324294-C-T		not specified	Uncertain significance (Aug 15, 2023)
1-26324309-C-T		not specified	Uncertain significance (Nov 11, 2024)
1-26324310-G-A		not specified	Uncertain significance (Jul 26, 2022)
1-26328212-C-T			Likely benign (Nov 01, 2022)
1-26328247-C-T		not specified	Uncertain significance (May 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRYBG2	protein_coding	protein_coding	ENST00000527815	19	32272

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.74e-12	0.995	125564	0	184	125748	0.000732

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.32	364	442	0.823	0.0000252	5002
Missense in Polyphen		137	189.47	0.72309		2185
Synonymous	0.353	182	188	0.967	0.0000116	1572
Loss of Function	2.65	25	44.0	0.568	0.00000203	488

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00296	0.00295
Ashkenazi Jewish	0.00	0.00
East Asian	0.000222	0.000217
Finnish	0.000477	0.000462
European (Non-Finnish)	0.000309	0.000299
Middle Eastern	0.000222	0.000217
South Asian	0.00108	0.00108
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Haploinsufficiency Scores

• pHI: 0.307
• hipred: N
• hipred_score: 0.316
• ghis: 0.462

Mouse Genome Informatics

• Gene name: Crybg2

Gene ontology

• Molecular function: carbohydrate binding