SOD2

superoxide dismutase 2, the group of Superoxide dismutases

Basic information

Region (hg38): 6:159669068-159762529

Links

ENSG00000291237 ∙ NCBI:6648 ∙ OMIM:147460 ∙ HGNC:11180 ∙ Uniprot:P04179 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• cardiomyopathy (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SOD2 gene.

• Inborn genetic diseases (11 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SOD2 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				1	1	2
missense			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	2	1

Variants in SOD2

This is a list of pathogenic ClinVar variants found in the SOD2 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-159682506-G-A		not specified	Uncertain significance (May 18, 2023)
6-159682529-C-A		not specified	Uncertain significance (Jun 09, 2022)
6-159682531-C-T		not specified	Uncertain significance (Mar 03, 2022)
6-159682583-A-G			Benign/Likely benign (Nov 01, 2023)
6-159682612-C-T		not specified	Uncertain significance (Oct 03, 2022)
6-159682620-C-A			Uncertain significance (Mar 09, 2022)
6-159684910-C-T		not specified	Likely benign (Dec 21, 2022)
6-159684953-C-A		not specified	Uncertain significance (Oct 26, 2022)
6-159684965-C-A		not specified	Uncertain significance (Mar 31, 2022)
6-159684978-C-G		not specified	Uncertain significance (Nov 14, 2023)
6-159685006-T-A		not specified	Uncertain significance (Jan 04, 2024)
6-159685010-G-A		not specified	Uncertain significance (Dec 08, 2023)
6-159685012-T-A		not specified	Uncertain significance (Mar 12, 2024)
6-159685031-C-G		not specified	Uncertain significance (Jun 24, 2022)
6-159688239-T-A		not specified	Uncertain significance (Aug 09, 2021)
6-159692671-C-T			Benign (Jun 23, 2018)
6-159692705-T-G		not specified	Uncertain significance (Nov 12, 2021)
6-159692756-G-C		not specified	Uncertain significance (Sep 30, 2021)
6-159692774-A-T		not specified	Uncertain significance (Jul 26, 2022)
6-159692840-A-G		SUPEROXIDE DISMUTASE 2 POLYMORPHISM • Microvascular complications of diabetes, susceptibility to, 6	Conflicting classifications of pathogenicity; risk factor (Jan 01, 2007)
6-159748228-G-C		not specified	Uncertain significance (May 27, 2022)
6-159748286-A-T		not specified	Uncertain significance (Apr 22, 2022)
6-159755210-G-A		not specified	Uncertain significance (Dec 27, 2022)
6-159755211-A-G		not specified	Uncertain significance (Dec 27, 2022)
6-159755213-G-A		not specified	Uncertain significance (May 06, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP