NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 9, 2017
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:: RCV000518527.2

Allele description [Variation Report for NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)]

NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)

Genes:

SOD1-DT:SOD1 divergent transcript [Gene - HGNC]
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.13G>A (p.Ala5Thr)

Other names:

A4T

HGVS:

NC_000021.9:g.31659782G>A
NG_008689.1:g.5161G>A
NM_000454.5:c.13G>AMANE SELECT
NP_000445.1:p.Ala5Thr
NP_000445.1:p.Ala5Thr
LRG_652t1:c.13G>A
LRG_652:g.5161G>A
LRG_652p1:p.Ala5Thr
NC_000021.8:g.33032095G>A
NM_000454.4:c.13G>A
P00441:p.Ala5Thr

Protein change:

A5T; ALA4THR

Links:

UniProtKB: P00441#VAR_007130; OMIM: 147450.0014; dbSNP: rs121912444

NCBI 1000 Genomes Browser:

rs121912444

Molecular consequence:

NM_000454.5:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000615367	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Mar 9, 2017)	germline	clinical testing	PubMed (32) [See all records that cite these PMIDs] 7985500, 26362407, 18666828, 27257061, 21257910, 23280792, 22292843, 20184515, 16291929, 14506936, 23447461, 15579468, 14970233, 17543992, 26843957, 18055113, 19815002, 7655471, 17333220, 17319283, 24971881, 27261500, 23541756, 11464950, 9857958, 16038516, 22941224, 12792143, 19483195, 8179602, 8830861, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000615367

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Mar 9, 2017)

germline

clinical testing

PubMed (32)
[See all records that cite these PMIDs]

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

Citations

PubMed

Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene.

Takahashi H, Makifuchi T, Nakano R, Sato S, Inuzuka T, Sakimura K, Mishina M, Honma Y, Tsuji S, Ikuta F.

Acta Neuropathol. 1994;88(2):185-8.

PubMed [citation]

PMID:: 7985500

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 (32)

Details of each submission

From Athena Diagnostics, SCV000615367.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (32)

#	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: Sep 29, 2024

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