NM_000454.5(SOD1):c.131A>G (p.His44Arg) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 18, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000713397.28

Allele description [Variation Report for NM_000454.5(SOD1):c.131A>G (p.His44Arg)]

NM_000454.5(SOD1):c.131A>G (p.His44Arg)

Gene:

SOD1:superoxide dismutase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

Preferred name:

NM_000454.5(SOD1):c.131A>G (p.His44Arg)

Other names:

H43R

HGVS:

NC_000021.9:g.31663848A>G
NG_008689.1:g.9227A>G
NM_000454.5:c.131A>GMANE SELECT
NP_000445.1:p.His44Arg
NP_000445.1:p.His44Arg
LRG_652t1:c.131A>G
LRG_652:g.9227A>G
LRG_652p1:p.His44Arg
NC_000021.8:g.33036161A>G
NM_000454.4:c.131A>G
P00441:p.His44Arg

Protein change:

H44R; HIS43ARG

Links:

UniProtKB: P00441#VAR_007140; OMIM: 147450.0005; dbSNP: rs121912435

NCBI 1000 Genomes Browser:

rs121912435

Molecular consequence:

NM_000454.5:c.131A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens trafficking protein particle complex subunit 3 (TRAPPC3), transcrip...
Homo sapiens trafficking protein particle complex subunit 3 (TRAPPC3), transcript variant 3, mRNA
gi|1890342900|ref|NM_001270895.2|

Nucleotide
Homo sapiens trafficking protein particle complex subunit 3 (TRAPPC3), transcrip...
Homo sapiens trafficking protein particle complex subunit 3 (TRAPPC3), transcript variant 2, mRNA
gi|1890332850|ref|NM_001270894.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000843998	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Apr 12, 2016)	germline	clinical testing	PubMed (35) [See all records that cite these PMIDs] 22332887, 26362407, 9029070, 14506936, 23447461, 26791423, 15634772, 23291526, 23280792, 24369116, 19483195, 22292843, 12732844, 26742954, 20184515, 23837654, 21901496, 25578810, 14658402, 11467054, 11464950, 21700707, 22647583, 12729761, 17319283, 20079423, 24472010, 8351519, 12963370, 21257910, 21506602, 7891072, 8446170, 9008494, 26467025
SCV001250465	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Aug 1, 2017)	germline	clinical testing	Citation Link,
SCV002020771	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 18, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000843998

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Apr 12, 2016)

germline

clinical testing

PubMed (35)
[See all records that cite these PMIDs]

SCV001250465

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Aug 1, 2017)

germline

clinical testing

Citation Link,

SCV002020771

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 18, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel variant of human superoxide dismutase 1 harboring amyotrophic lateral sclerosis-associated and experimental mutations in metal-binding residues and free cysteines lacks toxicity in vivo.

Prudencio M, Lelie H, Brown HH, Whitelegge JP, Valentine JS, Borchelt DR.

J Neurochem. 2012 May;121(3):475-85. doi: 10.1111/j.1471-4159.2012.07690.x. Epub 2012 Mar 20.

PubMed [citation]

PMID:: 22332887
PMCID:: PMC3705958

Destabilization of the dimer interface is a common consequence of diverse ALS-associated mutations in metal free SOD1.

Broom HR, Rumfeldt JA, Vassall KA, Meiering EM.

Protein Sci. 2015 Dec;24(12):2081-9. doi: 10.1002/pro.2803. Epub 2015 Oct 5.

PubMed [citation]

PMID:: 26362407
PMCID:: PMC4815230

See all PubMed Citations (36)

Details of each submission

From Athena Diagnostics, SCV000843998.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (35)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001250465.25

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002020771.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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