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NM_000454.5(SOD1):c.131A>G (p.His44Arg) AND Amyotrophic lateral sclerosis type 10

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 5, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002463588.2

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]

Condition(s)

Name:
Amyotrophic lateral sclerosis type 10 (ALS10)
Synonyms:
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; TARDBP-Related Amyotrophic Lateral Sclerosis; AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND WITH TDP43 INCLUSIONS; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012790; MedGen: C2677565; Orphanet: 275872; Orphanet: 803; OMIM: 612069

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002758554Human Genetics Bochum, Ruhr University Bochum
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 5, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Human Genetics Bochum, Ruhr University Bochum, SCV002758554.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG criteria used to clasify this variant: PS3, PM2, PS4, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024