CCDC7

Gene

coiled-coil domain containing 7

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C10orf68

MANE transcript

NM_001395015.1

Inheritance

—

ClinVar variants

U:61B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.69

Max pathogenic AF

—

Genomic locus

chr10:32,446,140-32,882,874

External References & Databases

Ensembl (ENSG00000216937)

Transcript & Mutation Effects

hg38 • Region Span ~436.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Tourette syndromeNO_KNOWN

Inheritance Pattern: Unknown

Disease ID:MONDO:0007661

Submitter: Labcorp Genetics (formerly Invitae)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCDC7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 60

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001395015.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			54 clinvar	6 clinvar		60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	61	6	0	67

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 80 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001395015.1	RefSeq	NP_001381944.1	42	MANE Select
ENST00000639629.2	Ensembl	ENSP00000491655.1	42	MANE Select
NM_001026383.3	RefSeq	NP_001021554.1	17	Standard
NM_001321115.2	RefSeq	NP_001308044.1	42	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000362006
Coding exons: 17
Length: 128425
Individuals with no LoFs: 104773
Homozygous LoFs: 1163
Heterozygous LoFs: 19781
Defined: 125717
p: 0.0871

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.346	209	224	0.935	0.0000106	3185
Missense (PolyPhen)		53	56.644	0.93566		862
Synonymous	-0.847	87	77.5	1.12	0.00000375	825
Loss of Function	1.64	23	33.2	0.693	0.00000177	438

Population LoF Frequency

Population	CAF	p-value	Status
African	0.020	0.019	notable
Latino/Admixed American	0.080	0.070	notable
Ashkenazi Jewish	0.12	0.12	notable
East Asian	0.17	0.16	notable
Finnish	0.091	0.090	notable
European (Non-Finnish)	0.093	0.089	notable
South Asian	0.092	0.083	notable
Other	0.097	0.090	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in tumorigenesis. {ECO:0000250|UniProtKB:Q9D541}.;

Recessive Scores

pRec: 0.0724

Intolerance Scores

LoFtool: 0.986
RVIS EVS: 0.22
RVIS percentile EVS: 68.44

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.483

Gene Damage Prediction

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