C17orf67

chromosome 17 open reading frame 67

Basic information

Region (hg38): 17:56791913-56838773

Links

ENSG00000214226 ∙ NCBI:339210 ∙ ∙ HGNC:27900 ∙ Uniprot:Q0P5P2 ∙ 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 C17orf67 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C17orf67 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						0
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in C17orf67

This is a list of pathogenic ClinVar variants found in the C17orf67 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-56814916-G-A		not specified	Uncertain significance (Aug 10, 2015)
17-56834477-G-T			Benign (Dec 25, 2019)
17-56834568-G-A			Benign (Nov 11, 2018)
17-56834790-G-A		DGKE-related disorder	Likely benign (Dec 19, 2022)
17-56834796-A-T		Atypical hemolytic-uremic syndrome	Likely pathogenic (Apr 24, 2017)
17-56834815-C-T			Uncertain significance (Feb 01, 2022)
17-56834816-G-A			Likely benign (Jun 24, 2022)
17-56834816-G-C			Likely benign (Jan 25, 2023)
17-56834827-C-A		AHUS, SUSCEPTIBILITY TO, 7 • Atypical hemolytic-uremic syndrome	Likely pathogenic; risk factor (May 01, 2013)
17-56834830-C-T		not specified • Kidney disorder • DGKE-related disorder	Conflicting classifications of pathogenicity (Jan 15, 2024)
17-56834836-A-G		not specified	Uncertain significance (Dec 22, 2023)
17-56834837-G-A			Likely benign (Jul 19, 2022)
17-56834842-TG-CT			Uncertain significance (May 05, 2023)
17-56834854-G-A		Kidney disorder	Benign/Likely benign (Jan 29, 2024)
17-56834856-C-CACCT		Immunoglobulin-mediated membranoproliferative glomerulonephritis	Pathogenic (Jun 30, 2021)
17-56834859-C-T			Likely benign (Apr 01, 2022)
17-56834878-G-A			Uncertain significance (May 22, 2022)
17-56834881-C-G			Uncertain significance (Aug 24, 2022)
17-56834892-C-T			Uncertain significance (Jul 23, 2022)
17-56834893-C-G			Uncertain significance (May 12, 2022)
17-56834912-G-C		not specified	Uncertain significance (Oct 20, 2023)
17-56834922-C-T		Immunoglobulin-mediated membranoproliferative glomerulonephritis	Pathogenic (Feb 01, 2013)
17-56834924-G-A		Immunoglobulin-mediated membranoproliferative glomerulonephritis	Benign/Likely benign (Jan 22, 2024)
17-56834925-C-A			Likely benign (Feb 20, 2023)
17-56834936-G-A			Likely benign (May 31, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C17orf67	protein_coding	protein_coding	ENST00000397861	3	46861

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000655	0.159	124649	0	148	124797	0.000593

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.202	59	54.8	1.08	0.00000340	578
Missense in Polyphen		28	27.141	1.0317		283
Synonymous	-0.395	26	23.6	1.10	0.00000147	177
Loss of Function	-0.634	7	5.41	1.29	3.14e-7	57

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00802	0.00805
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000796	0.0000794
Middle Eastern	0.0000556	0.0000556
South Asian	0.000131	0.000131
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.61
• rvis_percentile_EVS: 83.07

Haploinsufficiency Scores

• pHI: 0.0939
• hipred: N
• hipred_score: 0.219
• ghis: 0.380

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gm525

Gene ontology

• Cellular component: extracellular region
• Molecular function: protein binding