CCDC82

coiled-coil domain containing 82

Basic information

Region (hg38): 11:96349241-96389956

Links

ENSG00000149231 ∙ NCBI:79780 ∙ OMIM:619870 ∙ HGNC:26282 ∙ Uniprot:Q8N4S0 ∙ 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 CCDC82 gene.

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC82 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						0
missense			31	3	1	35
nonsense		1				1
start loss						0
frameshift	1		2			3
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	1	1	33	3	1

Variants in CCDC82

This is a list of pathogenic ClinVar variants found in the CCDC82 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-96359112-A-G		not specified	Uncertain significance (Sep 16, 2021)
11-96359147-C-T		not specified	Uncertain significance (Oct 28, 2023)
11-96359148-G-A		not specified	Uncertain significance (Sep 06, 2022)
11-96359151-T-G		not specified	Uncertain significance (May 31, 2023)
11-96364991-G-A		not specified	Uncertain significance (Dec 17, 2023)
11-96365001-A-T		not specified	Uncertain significance (May 12, 2024)
11-96365019-C-G		not specified	Uncertain significance (Oct 07, 2022)
11-96365066-A-G		not specified	Likely benign (May 23, 2023)
11-96365090-AG-A			Uncertain significance (Jan 04, 2023)
11-96365141-C-T		not specified	Uncertain significance (May 26, 2022)
11-96371020-T-C		not specified	Uncertain significance (Nov 09, 2022)
11-96371059-C-T		not specified	Uncertain significance (Oct 10, 2023)
11-96373414-T-C		not specified	Uncertain significance (Aug 08, 2022)
11-96383380-T-C		not specified	Uncertain significance (Apr 18, 2023)
11-96383392-C-T		not specified	Uncertain significance (Dec 06, 2021)
11-96383470-A-C		not specified	Uncertain significance (Dec 06, 2022)
11-96383473-C-T		not specified	Uncertain significance (Jan 03, 2024)
11-96383985-G-A		not specified	Uncertain significance (Dec 01, 2022)
11-96383994-G-A		not specified	Uncertain significance (Mar 12, 2024)
11-96384017-T-C		not specified	Uncertain significance (Jun 10, 2022)
11-96384095-C-A		not specified	Uncertain significance (Sep 16, 2021)
11-96384117-G-A		not specified	Uncertain significance (Jun 24, 2022)
11-96384188-G-A		not specified	Uncertain significance (May 29, 2024)
11-96384207-T-C		not specified	Uncertain significance (Dec 08, 2023)
11-96384212-C-T		not specified	Uncertain significance (Jul 21, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC82	protein_coding	protein_coding	ENST00000278520	7	37155

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.38e-7	0.977	125704	0	30	125734	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0834	275	279	0.986	0.0000144	3661
Missense in Polyphen		97	109.52	0.88568		1392
Synonymous	0.348	90	94.3	0.954	0.00000469	898
Loss of Function	2.14	15	27.0	0.556	0.00000153	343

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000259	0.000258
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000151	0.000149
Middle Eastern	0.000109	0.000109
South Asian	0.000136	0.000131
Other	0.000205	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.916
• rvis_EVS: 0.82
• rvis_percentile_EVS: 88.02

Haploinsufficiency Scores

• pHI: 0.0993
• hipred: N
• hipred_score: 0.146
• ghis: 0.485

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.553

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ccdc82