C10orf71

chromosome 10 open reading frame 71

Basic information

Region (hg38): 10:49299170-49327492

Links

ENSG00000177354 ∙ NCBI:118461 ∙ ∙ HGNC:26973 ∙ Uniprot:Q711Q0 ∙ 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 C10orf71 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C10orf71 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					2	2
missense			14	1	5	20
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	7

Variants in C10orf71

This is a list of pathogenic ClinVar variants found in the C10orf71 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-49322576-G-A		not specified	Uncertain significance (Sep 30, 2021)
10-49322649-G-A		not specified	Uncertain significance (Feb 21, 2025)
10-49322832-C-T		not specified	Uncertain significance (Jul 15, 2021)
10-49322898-C-G		not specified	Uncertain significance (Aug 12, 2021)
10-49323178-G-T			Benign (Dec 31, 2019)
10-49323504-G-T			Benign (Jul 24, 2018)
10-49323559-T-C			Benign (Jul 24, 2018)
10-49323561-C-A			Benign (Jul 24, 2018)
10-49323597-GCAGGGATCCAGGAGCC-G		Primary dilated cardiomyopathy	Uncertain significance (Nov 26, 2024)
10-49323862-C-T			Benign (Dec 31, 2019)
10-49323864-C-G		not specified	Uncertain significance (Sep 16, 2021)
10-49323927-A-C			Benign (Aug 01, 2018)
10-49324046-T-A		not specified	Uncertain significance (Sep 30, 2021)
10-49324110-T-G			Benign (Dec 31, 2019)
10-49324562-T-C		not specified	Uncertain significance (Sep 15, 2021)
10-49325057-G-T		not specified	Uncertain significance (Jun 23, 2021)
10-49325322-G-A		not specified	Likely benign (Aug 13, 2021)
10-49325661-C-A		not specified	Uncertain significance (Aug 13, 2021)
10-49325720-C-A		not specified	Uncertain significance (Jul 09, 2021)
10-49325937-C-A		not specified	Uncertain significance (Sep 15, 2021)
10-49325943-A-G		not specified	Uncertain significance (Oct 06, 2021)
10-49326515-C-T		not specified	Uncertain significance (Jun 21, 2021)
10-49326654-C-T		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C10orf71	protein_coding	protein_coding	ENST00000374144	1	28351

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.96e-9	0.992	124620	0	38	124658	0.000152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.687	765	820	0.933	0.0000463	9335
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000457	0.000455
Ashkenazi Jewish	0.00	0.00
East Asian	0.000224	0.000222
Finnish	0.0000481	0.0000464
European (Non-Finnish)	0.000125	0.000124
Middle Eastern	0.000224	0.000222
South Asian	0.000235	0.000229
Other	0.00	0.00

dbNSFP

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

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.145
• ghis: 0.393

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 3425401B19Rik