C10orf71

protein-coding

chromosome 10 open reading frame 71

Gene summary

Predicted to be involved in positive regulation of calcineurin-NFAT signaling cascade. Predicted to be active in Z disc. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001135196.2

Inheritance

ClinVar variants

P:5U:20B:5

Top phenotype

Cardiomyopathy, dilated, 1QQ

gnomAD constraint

pLI —, LoF o/e 0.55

Max pathogenic AF

—

Genomic locus

chr10:49,299,170-49,327,492

External References & Databases

Ensembl (ENSG00000177354)

Transcript & Mutation Effects

hg38 • Region Span ~28.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

dilated cardiomyopathyLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0005021

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to C10orf71 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 18

not providedTotal: 5

Cardiomyopathy, dilated, 1QQTotal: 4

Primary dilated cardiomyopathyTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001135196.2. 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 clinvar	2
missense			19 clinvar	1 clinvar	2 clinvar	22
nonsense		2 clinvar				2
start loss						0
frameshift	3 clinvar		1 clinvar			4
splice donor/acceptor (+/-2bp)						0
Total	3	2	20	2	3	30

Highest pathogenic variant AF is 0.000009295788

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001135196.2	RefSeq	NP_001128668.1	1	MANE Select
ENST00000374144.8	Ensembl	ENSP00000363259.3	1	MANE Select
ENST00000862410.1	Ensembl	ENSP00000532469.1	1	Standard
ENST00000862410.2	Ensembl	ENSP00000532469.1	1	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000374144
Coding exons: 1
Length: 28351
Individuals with no LoFs: 124620
Homozygous LoFs: 0
Heterozygous LoFs: 38
Defined: 124658
p: 0.000152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.687	765	820	0.933	0.0000463	9335
Missense (PolyPhen)		203	248.71	0.8162		3134
Synonymous	1.10	322	348	0.925	0.0000219	2957
Loss of Function	2.49	20	36.2	0.553	0.00000177	455

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00020	0.00019	rare
Latino/Admixed American	0.00026	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000048	0.000046	rare
European (Non-Finnish)	0.00012	0.00012	rare
South Asian	0.00023	0.00023	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway. {ECO:0000250|UniProtKB:M0RD54}.;

Intolerance Scores

LoFtool: 0.779
RVIS EVS: 2.59
RVIS percentile EVS: 98.76

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