CCDC190

Gene

coiled-coil domain containing 190

Gene summary

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

Previous symbols:

C1orf110

MANE transcript

NM_001394065.1

Inheritance

—

ClinVar variants

U:40B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr1:162,824,458-162,868,761

External References & Databases

Ensembl (ENSG00000185860)

Transcript & Mutation Effects

hg38 • Region Span ~44.3 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 CCDC190 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 45

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001394065.1. 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						0
missense			39 clinvar	6 clinvar		45
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	6	0	46

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001394065.1	RefSeq	NP_001380994.1	3	MANE Select
ENST00000367912.7	Ensembl	ENSP00000356888.3	3	MANE Select
NM_178550.6	RefSeq	NP_848645.3	3	Standard
ENST00000367910.5	Ensembl	ENSP00000356886.1	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367910
Coding exons: 3
Length: 44358
Individuals with no LoFs: 124535
Homozygous LoFs: 1
Heterozygous LoFs: 75
Defined: 124611
p: 0.000305

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.160	149	155	0.964	0.00000734	1993
Missense (PolyPhen)		34	44.565	0.76292		632
Synonymous	-0.763	64	56.7	1.13	0.00000270	560
Loss of Function	0.614	4	5.56	0.719	2.34e-7	74

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0.00040	0.00040	rare
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00012	0.00012	rare
South Asian	0.0016	0.0016	notable
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.53
RVIS percentile EVS: 80.82

Essentials

Essential (gene trap): N