C5orf34

chromosome 5 open reading frame 34

Basic information

Region (hg38): 5:43486709-43515148

Links

ENSG00000172244 ∙ NCBI:375444 ∙ ∙ HGNC:24738 ∙ Uniprot:Q96MH7 ∙ 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 C5orf34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C5orf34 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						0
missense			6	1		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	1	0

Variants in C5orf34

This is a list of pathogenic ClinVar variants found in the C5orf34 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-43492766-G-A		not specified	Uncertain significance (Oct 29, 2021)
5-43494582-G-A		not specified	Uncertain significance (Dec 18, 2023)
5-43505892-T-C		not specified	Uncertain significance (Sep 27, 2021)
5-43506048-T-A		not specified	Uncertain significance (Jul 14, 2021)
5-43506087-A-C		not specified	Uncertain significance (Sep 17, 2021)
5-43508638-C-T		not specified	Uncertain significance (Sep 27, 2021)
5-43509323-C-T		not specified	Likely benign (Jun 11, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C5orf34	protein_coding	protein_coding	ENST00000306862	12	28445

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.00e-15	0.237	125598	0	145	125743	0.000577

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.194	326	316	1.03	0.0000145	4160
Missense in Polyphen		93	94.656	0.9825		1322
Synonymous	0.163	107	109	0.980	0.00000513	1192
Loss of Function	1.21	26	33.6	0.775	0.00000157	442

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000864	0.000859
Ashkenazi Jewish	0.00	0.00
East Asian	0.00152	0.00152
Finnish	0.000509	0.000508
European (Non-Finnish)	0.000612	0.000589
Middle Eastern	0.00152	0.00152
South Asian	0.000372	0.000359
Other	0.000659	0.000652

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.955
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.82

Haploinsufficiency Scores

• pHI: 0.208
• hipred: N
• hipred_score: 0.123
• ghis: 0.606

Essentials

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

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 4833420G17Rik