ANKRD30B

ankyrin repeat domain 30B, the group of Ankyrin repeat domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): 18:14728272-14854667

Links

ENSG00000180777 ∙ NCBI:374860 ∙ OMIM:616565 ∙ HGNC:24165 ∙ Uniprot:Q9BXX2 ∙ 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 ANKRD30B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD30B 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			76	6		82
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	76	9	0

Variants in ANKRD30B

This is a list of pathogenic ClinVar variants found in the ANKRD30B region.

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

Position	Type	Phenotype	Significance	ClinVar
18-14748453-G-A		not specified	Uncertain significance (Sep 25, 2023)
18-14748475-A-G		not specified	Likely benign (Feb 02, 2022)
18-14748477-C-A		not specified	Uncertain significance (Apr 07, 2022)
18-14748523-A-G		not specified	Uncertain significance (Sep 16, 2021)
18-14748579-C-A		not specified	Uncertain significance (Dec 26, 2023)
18-14748633-A-G		not specified	Uncertain significance (Jan 27, 2022)
18-14752602-A-G			Likely benign (May 01, 2022)
18-14752866-G-A		not specified	Uncertain significance (May 13, 2022)
18-14752911-G-C		not specified	Uncertain significance (Jan 31, 2024)
18-14754904-C-A		not specified	Uncertain significance (Feb 12, 2024)
18-14754945-A-C		not specified	Uncertain significance (Sep 29, 2022)
18-14754965-A-G		not specified	Uncertain significance (Mar 28, 2024)
18-14754971-A-G		not specified	Uncertain significance (Aug 03, 2022)
18-14757918-G-C		not specified	Uncertain significance (Apr 22, 2022)
18-14757924-C-T		not specified	Uncertain significance (Jan 04, 2022)
18-14763775-G-A		not specified	Uncertain significance (Mar 24, 2023)
18-14763778-G-A		not specified	Uncertain significance (May 17, 2023)
18-14763806-C-T		not specified	Uncertain significance (May 23, 2024)
18-14763871-C-A		not specified	Uncertain significance (Dec 20, 2023)
18-14763967-A-G		not specified	Uncertain significance (Jan 23, 2024)
18-14764078-G-A		not specified	Uncertain significance (Aug 08, 2022)
18-14769349-T-A		not specified	Likely benign (Aug 02, 2021)
18-14769363-C-T		not specified	Likely benign (Apr 18, 2024)
18-14769367-T-C		not specified	Uncertain significance (Apr 18, 2024)
18-14772170-G-A		not specified	Uncertain significance (Jun 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD30B	protein_coding	protein_coding	ENST00000358984	36	124467

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.60e-21	0.651	124687	0	90	124777	0.000361

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.720	630	581	1.08	0.0000281	9074
Missense in Polyphen		170	166.61	1.0203		2808
Synonymous	-1.46	233	206	1.13	0.0000109	2413
Loss of Function	2.14	42	59.9	0.702	0.00000271	971

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000673	0.000664
Ashkenazi Jewish	0.00	0.00
East Asian	0.000481	0.000445
Finnish	0.0000478	0.0000464
European (Non-Finnish)	0.000214	0.000203
Middle Eastern	0.000481	0.000445
South Asian	0.00137	0.00124
Other	0.000896	0.000825

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.51

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.158

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function