C8orf34

chromosome 8 open reading frame 34

Basic information

Region (hg38): 8:68330954-68819023

Links

ENSG00000165084 ∙ NCBI:116328 ∙ ∙ HGNC:30905 ∙ Uniprot:Q49A92 ∙ 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 C8orf34 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C8orf34 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			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in C8orf34

This is a list of pathogenic ClinVar variants found in the C8orf34 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-68331069-C-G		not specified	Uncertain significance (Oct 26, 2021)
8-68446430-A-G		not specified	Uncertain significance (Nov 12, 2021)
8-68721358-T-C			Likely benign (Feb 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C8orf34	protein_coding	protein_coding	ENST00000518698	14	488301

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.49e-12	0.330	125548	0	200	125748	0.000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.660	240	271	0.887	0.0000131	3471
Missense in Polyphen		94	117.54	0.79975		1585
Synonymous	0.368	97	102	0.954	0.00000503	1048
Loss of Function	1.16	22	28.7	0.767	0.00000137	357

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00159	0.00159
Ashkenazi Jewish	0.00149	0.00149
East Asian	0.000551	0.000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.00102	0.00100
Middle Eastern	0.000551	0.000544
South Asian	0.000278	0.000261
Other	0.000333	0.000326

dbNSFP

Source: dbNSFP

• Pathway: MET in type 1 papillary renal cell carcinoma (Consensus)

Intolerance Scores

• loftool: 0.776
• rvis_EVS: -0.31
• rvis_percentile_EVS: 31.93

Haploinsufficiency Scores

• pHI: 0.262
• hipred: N
• hipred_score: 0.275
• ghis: 0.419

Essentials

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

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: A830018L16Rik