NM_000454.5(SOD1):c.346C>G (p.Arg116Gly) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 1, 2019
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:: RCV000993042.23

Allele description [Variation Report for NM_000454.5(SOD1):c.346C>G (p.Arg116Gly)]

NM_000454.5(SOD1):c.346C>G (p.Arg116Gly)

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.346C>G (p.Arg116Gly)

HGVS:

NC_000021.9:g.31667364C>G
NG_008689.1:g.12743C>G
NM_000454.5:c.346C>GMANE SELECT
NP_000445.1:p.Arg116Gly
LRG_652t1:c.346C>G
LRG_652:g.12743C>G
NC_000021.8:g.33039677C>G
NC_000021.8:g.33039677C>G
NM_000454.4:c.346C>G

Protein change:

R116G

Links:

dbSNP: rs1301635320

NCBI 1000 Genomes Browser:

rs1301635320

Molecular consequence:

NM_000454.5:c.346C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Candidate division MSBL1 archaeon SCGC-AAA259O05, whole genome shotgun sequencin...
Candidate division MSBL1 archaeon SCGC-AAA259O05, whole genome shotgun sequencing project
gi|985670985|gb|LHXV00000000.1|LHXV 000

Nucleotide
Candidate division MSBL1 archaeon SCGC-AAA259E19, whole genome shotgun sequencin...
Candidate division MSBL1 archaeon SCGC-AAA259E19, whole genome shotgun sequencing project
gi|985664236|gb|LHXO00000000.1|LHXO 000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001145743	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Aug 28, 2018)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 29650794, 14506936, 16291929, 15258228, 17513298, 19063897, 20309572, 25572957, 14623191, 7881433, 26467025
SCV001250467	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Oct 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001145743

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Aug 28, 2018)

germline

clinical testing

PubMed (11)
[See all records that cite these PMIDs]

SCV001250467

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Pathogenic
(Oct 1, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Comprehensive analysis of the mutation spectrum in 301 German ALS families.

Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, et al.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827. doi: 10.1136/jnnp-2017-317611. Epub 2018 Apr 12.

PubMed [citation]

PMID:: 29650794

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

Andersen PM, Sims KB, Xin WW, Kiely R, O'Neill G, Ravits J, Pioro E, Harati Y, Brower RD, Levine JS, Heinicke HU, Seltzer W, Boss M, Brown RH Jr.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Jun;4(2):62-73.

PubMed [citation]

PMID:: 14506936

See all PubMed Citations (11)

Details of each submission

From Athena Diagnostics, SCV001145743.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

This variant is published to be a common German founder variant and has been published in over 23 ALS families. The best available variant frequency is above the disease allele frequency but data include fewer than 10 observations. Statistically enriched in patients compared to ethnically matched controls. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Statistically associated with disease in genotyped family members (p < 0.05), and data are from multiple families.

#	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, SCV001250467.25

#	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

Last Updated: Oct 8, 2024

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