ANKRD34C

ankyrin repeat domain 34C, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 15:79282721-79298239

Links

ENSG00000235711 ∙ NCBI:390616 ∙ ∙ HGNC:33888 ∙ Uniprot:P0C6C1 ∙ 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 ANKRD34C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD34C 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			29			29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	0	0

Variants in ANKRD34C

This is a list of pathogenic ClinVar variants found in the ANKRD34C region.

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

Position	Type	Phenotype	Significance	ClinVar
15-79293288-A-G		not specified	Uncertain significance (Sep 28, 2022)
15-79293297-G-C		not specified	Uncertain significance (Sep 14, 2022)
15-79293562-G-C		not specified	Uncertain significance (Nov 27, 2023)
15-79293570-A-G		not specified	Uncertain significance (Sep 01, 2021)
15-79293771-A-G		not specified	Uncertain significance (Dec 20, 2023)
15-79293820-G-A		not specified	Uncertain significance (Feb 17, 2022)
15-79293856-T-C		not specified	Uncertain significance (Oct 03, 2022)
15-79293879-G-A		not specified	Uncertain significance (Nov 21, 2023)
15-79293907-A-G		not specified	Uncertain significance (Mar 11, 2022)
15-79293999-C-T		not specified	Uncertain significance (Nov 07, 2022)
15-79294060-C-T		not specified	Uncertain significance (Aug 01, 2022)
15-79294087-G-T		not specified	Uncertain significance (May 24, 2023)
15-79294135-G-A		not specified	Uncertain significance (Feb 05, 2024)
15-79294161-A-T		not specified	Uncertain significance (May 06, 2024)
15-79294174-C-G		not specified	Uncertain significance (Apr 08, 2022)
15-79294184-C-G		not specified	Uncertain significance (Jan 11, 2023)
15-79294395-T-C		not specified	Uncertain significance (Sep 01, 2021)
15-79294399-T-A		not specified	Uncertain significance (Sep 26, 2023)
15-79294423-A-G		not specified	Uncertain significance (Sep 26, 2023)
15-79294425-G-C		not specified	Uncertain significance (Jun 11, 2021)
15-79294436-A-G		not specified	Uncertain significance (Jan 19, 2024)
15-79294441-C-T		not specified	Uncertain significance (Dec 09, 2023)
15-79294464-A-T		not specified	Uncertain significance (Sep 27, 2021)
15-79294597-C-T		not specified	Uncertain significance (Nov 03, 2022)
15-79294683-A-C		not specified	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD34C	protein_coding	protein_coding	ENST00000421388	1	15435

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.215	0.778	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.14	184	286	0.643	0.0000148	3477
Missense in Polyphen		42	95.009	0.44206		1251
Synonymous	1.51	93	113	0.820	0.00000609	1132
Loss of Function	2.29	3	11.3	0.265	6.70e-7	164

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

Intolerance Scores

• rvis_EVS: 0.12
• rvis_percentile_EVS: 62.38

Haploinsufficiency Scores

• ghis: 0.544

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.125

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd34c