TTC34

tetratricopeptide repeat domain 34, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 1:2636985-2801693

Links

ENSG00000215912 ∙ NCBI:100287898 ∙ ∙ HGNC:34297 ∙ Uniprot:A8MYJ7 ∙ 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 TTC34 gene.

• Inborn genetic diseases (36 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC34 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				3		3
missense			32	4		36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	7	0

Variants in TTC34

This is a list of pathogenic ClinVar variants found in the TTC34 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-2641403-G-A		not specified	Uncertain significance (Oct 27, 2022)
1-2641432-C-T		not specified	Uncertain significance (Aug 30, 2021)
1-2641468-G-A		not specified	Uncertain significance (Dec 19, 2022)
1-2641527-C-G		not specified	Uncertain significance (Sep 22, 2023)
1-2641531-C-T		not specified	Uncertain significance (Jan 16, 2024)
1-2641544-C-A		not specified	Uncertain significance (Aug 11, 2022)
1-2641560-G-C		not specified	Likely benign (Feb 15, 2023)
1-2641655-G-C		not specified	Uncertain significance (Nov 06, 2023)
1-2641678-G-A		not specified	Likely benign (Jun 23, 2023)
1-2641681-C-A		not specified	Uncertain significance (May 23, 2023)
1-2641681-C-T		not specified	Likely benign (Aug 02, 2021)
1-2641682-G-A		not specified	Uncertain significance (Dec 12, 2023)
1-2641745-G-A		not specified	Uncertain significance (Mar 01, 2023)
1-2641795-C-A		not specified	Uncertain significance (Apr 25, 2022)
1-2641802-T-G		not specified	Uncertain significance (Jan 16, 2024)
1-2641891-G-A		not specified	Uncertain significance (May 04, 2022)
1-2641895-C-T		not specified	Uncertain significance (Jan 22, 2024)
1-2644274-C-T		not specified	Uncertain significance (May 04, 2023)
1-2644280-C-T		not specified	Uncertain significance (Apr 25, 2022)
1-2644286-G-A		not specified	Uncertain significance (Mar 06, 2023)
1-2644293-C-T		not specified	Uncertain significance (Oct 05, 2023)
1-2644356-T-C		not specified	Uncertain significance (Feb 06, 2024)
1-2644404-G-A		not specified	Uncertain significance (Sep 25, 2023)
1-2644463-G-C		not specified	Uncertain significance (Feb 16, 2023)
1-2644470-C-G		not specified	Uncertain significance (Jan 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTC34	protein_coding	protein_coding	ENST00000401095	7	150872

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.48e-11	0.0360	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.269	295	308	0.957	0.0000214	3535
Missense in Polyphen		67	78.302	0.85566		1050
Synonymous	1.29	126	146	0.864	0.0000100	1311
Loss of Function	-0.285	15	13.9	1.08	7.31e-7	185

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.416

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.192

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttc34