NM_000344.4(SMN1):c.784A>G (p.Ser262Gly) AND Kugelberg-Welander disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2005
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000009756.2

Allele description [Variation Report for NM_000344.4(SMN1):c.784A>G (p.Ser262Gly)]

NM_000344.4(SMN1):c.784A>G (p.Ser262Gly)

Gene:

SMN1:survival of motor neuron 1, telomeric [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

Preferred name:

NM_000344.4(SMN1):c.784A>G (p.Ser262Gly)

HGVS:

NC_000005.10:g.70946126A>G
NG_008691.1:g.26186A>G
NM_000344.4:c.784A>GMANE SELECT
NM_001297715.1:c.784A>G
NM_022874.2:c.688A>G
NP_000335.1:p.Ser262Gly
NP_001284644.1:p.Ser262Gly
NP_075012.1:p.Ser230Gly
LRG_676:g.26186A>G
NC_000005.9:g.70241953A>G
Q16637:p.Ser262Gly

Protein change:

S230G; SER262GLY

Links:

UniProtKB: Q16637#VAR_034809; OMIM: 600354.0016; dbSNP: rs104893932

NCBI 1000 Genomes Browser:

rs104893932

Molecular consequence:

NM_000344.4:c.784A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001297715.1:c.784A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022874.2:c.688A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Kugelberg-Welander disease (SMA3)
Synonyms:: SPINAL MUSCULAR ATROPHY, TYPE III; SMA III; Muscular atrophy, juvenile; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009672; MedGen: C0152109; Orphanet: 70; Orphanet: 83419; OMIM: 253400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029977	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2005)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029977

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2005)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.

Hum Mutat. 2005 Jan;25(1):64-71.

PubMed [citation]

PMID:: 15580564

Details of each submission

From OMIM, SCV000029977.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with type III SMA (253400), Sun et al. (2005) identified a 784A-G transition in exon 6 of the SMN1 gene, resulting in a ser262-to-gly (S262G) missense mutation.

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

Last Updated: Mar 26, 2023

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