ANKRD34B

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

Basic information

Region (hg38): 5:80556755-80570280

Links

ENSG00000189127 ∙ NCBI:340120 ∙ OMIM:618581 ∙ HGNC:33736 ∙ Uniprot:A5PLL1 ∙ 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 ANKRD34B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD34B 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in ANKRD34B

This is a list of pathogenic ClinVar variants found in the ANKRD34B region.

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

Position	Type	Phenotype	Significance	ClinVar
5-80558623-T-C		not specified	Likely benign (Mar 22, 2023)
5-80558695-G-A		not specified	Uncertain significance (Apr 19, 2023)
5-80558754-T-G		not specified	Uncertain significance (May 11, 2022)
5-80558767-G-T		not specified	Uncertain significance (Apr 22, 2024)
5-80558985-A-C		not specified	Uncertain significance (Apr 25, 2023)
5-80559083-T-G		not specified	Uncertain significance (Oct 25, 2022)
5-80559097-G-A		not specified	Uncertain significance (Nov 17, 2022)
5-80559161-A-G		not specified	Uncertain significance (Apr 01, 2024)
5-80559238-A-T		not specified	Uncertain significance (Mar 23, 2023)
5-80559252-C-T		not specified	Uncertain significance (May 05, 2023)
5-80559254-T-C		not specified	Uncertain significance (Dec 27, 2023)
5-80559433-G-A		not specified	Likely benign (May 01, 2024)
5-80559464-G-C		not specified	Uncertain significance (Feb 17, 2022)
5-80559473-A-G		not specified	Uncertain significance (Mar 30, 2024)
5-80559527-G-T		not specified	Uncertain significance (Aug 02, 2021)
5-80559575-T-C		not specified	Uncertain significance (Feb 16, 2023)
5-80559604-C-T		not specified	Uncertain significance (Nov 07, 2022)
5-80559638-A-T		not specified	Uncertain significance (Mar 24, 2023)
5-80559822-C-T		not specified	Uncertain significance (Jul 09, 2021)
5-80559879-T-A		not specified	Uncertain significance (Dec 08, 2023)
5-80559895-C-G		not specified	Uncertain significance (May 23, 2024)
5-80559896-G-A		not specified	Uncertain significance (Dec 20, 2023)
5-80559916-T-C		not specified	Uncertain significance (Feb 23, 2023)
5-80559941-T-C		not specified	Uncertain significance (Apr 16, 2024)
5-80559979-A-G		not specified	Uncertain significance (Nov 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD34B	protein_coding	protein_coding	ENST00000338682	1	13734

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.83e-14	0.00211	125665	0	83	125748	0.000330

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.570	240	266	0.902	0.0000133	3360
Missense in Polyphen		80	83.959	0.95284		1047
Synonymous	0.528	98	105	0.934	0.00000561	1028
Loss of Function	-1.34	18	12.8	1.41	6.26e-7	204

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00120	0.00116
Ashkenazi Jewish	0.00	0.00
East Asian	0.000489	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.000489	0.000489
South Asian	0.00101	0.00101
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0931

Intolerance Scores

• loftool: 0.870
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.61

Haploinsufficiency Scores

• pHI: 0.307
• hipred: N
• hipred_score: 0.205
• ghis: 0.412

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0295

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd34b

Gene ontology

• Cellular component: nucleus;cytoplasm