MIR29B2CHG

MIR29B2 and MIR29C host gene, the group of MicroRNA non-coding host genes

Basic information

Region (hg38): 1:207760650-207879121

Previous symbols: [ "C1orf132" ]

Links

ENSG00000203709 ∙ NCBI:100128537 ∙ ∙ HGNC:32018 ∙ ∙ ∙ 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 MIR29B2CHG gene.

• not provided (131 variants)
• Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly (65 variants)
• CD46-related condition (6 variants)
• not specified (5 variants)
• Atypical hemolytic-uremic syndrome (5 variants)
• Inborn genetic diseases (4 variants)
• Kidney disorder (3 variants)
• Familial Atypical Hemolytic-Uremic Syndrome (1 variants)
• Myofibrillar myopathy 6 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR29B2CHG 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						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	8	9	95	40	30	182
Total	8	9	95	40	30

Highest pathogenic variant AF is 0.0000394

Variants in MIR29B2CHG

This is a list of pathogenic ClinVar variants found in the MIR29B2CHG region.

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

Position	Type	Phenotype	Significance	ClinVar
1-207761142-A-C			Benign (Nov 10, 2018)
1-207761208-A-T			Benign (Jun 21, 2021)
1-207761240-AT-A			Benign (Oct 23, 2023)
1-207761243-TT-G		Atypical hemolytic-uremic syndrome • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (May 18, 2022)
1-207761244-T-G			Likely benign (Oct 23, 2023)
1-207761246-A-T			Uncertain significance (Jun 17, 2022)
1-207761248-G-A		Atypical hemolytic-uremic syndrome	Pathogenic (Aug 28, 2018)
1-207761264-C-A			Uncertain significance (Nov 28, 2023)
1-207761282-A-G			Uncertain significance (Jan 25, 2024)
1-207761295-C-T			Likely benign (Nov 29, 2017)
1-207761300-G-A			Uncertain significance (Nov 06, 2021)
1-207761308-G-C		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Conflicting classifications of pathogenicity (Jan 29, 2024)
1-207761310-A-G			Likely benign (Mar 14, 2023)
1-207761313-ATT-A		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Pathogenic (-)
1-207761318-A-T			Uncertain significance (Mar 30, 2021)
1-207761321-A-G		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Mar 03, 2023)
1-207761325-T-C			Likely benign (Jul 10, 2023)
1-207761326-G-A			Uncertain significance (Jan 04, 2024)
1-207761327-A-G			Uncertain significance (Mar 14, 2023)
1-207761331-AG-CC		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (May 05, 2020)
1-207761332-G-C		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Likely pathogenic (Apr 04, 2024)
1-207761338-T-G		Atypical hemolytic-uremic syndrome • not specified	Uncertain significance (Jul 31, 2024)
1-207761347-G-C		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly • Kidney disorder	Conflicting classifications of pathogenicity (Nov 27, 2023)
1-207761350-C-T			Uncertain significance (Nov 18, 2023)
1-207761359-G-C		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Apr 28, 2017)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.127
• ghis: 0.478