CCDC171

Gene

coiled-coil domain containing 171

Gene summary

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

Previous symbols:

C9orf93

MANE transcript

NM_173550.4

Inheritance

—

ClinVar variants

U:260B:13

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.98

Max pathogenic AF

—

Genomic locus

chr9:15,553,043-16,061,663

External References & Databases

Ensembl (ENSG00000164989)

Transcript & Mutation Effects

hg38 • Region Span ~508.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCDC171 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 260

not providedTotal: 5

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173550.4. 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			2 clinvar	1 clinvar	1 clinvar	4
missense			255 clinvar	9 clinvar	2 clinvar	266
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	260	10	3	273

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 48 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173550.4	RefSeq	NP_775821.2	25	MANE Select
ENST00000380701.8	Ensembl	ENSP00000370077.3	25	MANE Select
NM_001348002.2	RefSeq	NP_001334931.1	23	Standard
NM_001355547.1	RefSeq	NP_001342476.1	25	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000380701
Coding exons: 25
Length: 508767
Individuals with no LoFs: 125240
Homozygous LoFs: 1
Heterozygous LoFs: 507
Defined: 125748
p: 0.00202

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-3.32	900	660	1.36	0.0000340	8736
Missense (PolyPhen)		278	232.27	1.1969		3227
Synonymous	-4.13	321	240	1.34	0.0000120	2346
Loss of Function	0.146	72	73.3	0.982	0.00000400	930

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0043	0.0042	notable
Latino/Admixed American	0.0015	0.0014	notable
Ashkenazi Jewish	0.00051	0.00050	rare
East Asian	0.0012	0.00087	notable
Finnish	0.00079	0.00079	rare
European (Non-Finnish)	0.0022	0.0022	notable
South Asian	0.0034	0.0033	notable
Other	0.0010	0.00098	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: -0.87
RVIS percentile EVS: 10.66

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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