NM_000344.4(SMN1):c.406C>G (p.Gln136Glu) AND Werdnig-Hoffmann disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 13, 2004
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:: RCV000009758.3

Allele description [Variation Report for NM_000344.4(SMN1):c.406C>G (p.Gln136Glu)]

NM_000344.4(SMN1):c.406C>G (p.Gln136Glu)

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.406C>G (p.Gln136Glu)

HGVS:

NC_000005.10:g.70942490C>G
NG_008691.1:g.22550C>G
NM_000344.4:c.406C>GMANE SELECT
NM_001297715.1:c.406C>G
NM_022874.2:c.406C>G
NP_000335.1:p.Gln136Glu
NP_001284644.1:p.Gln136Glu
NP_075012.1:p.Gln136Glu
LRG_676:g.22550C>G
NC_000005.9:g.70238317C>G
Q16637:p.Gln136Glu

Protein change:

Q136E; GLN136GLU

Links:

UniProtKB: Q16637#VAR_034808; OMIM: 600354.0018; dbSNP: rs104893934

NCBI 1000 Genomes Browser:

rs104893934

Molecular consequence:

NM_000344.4:c.406C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001297715.1:c.406C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022874.2:c.406C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Werdnig-Hoffmann disease (SMA1)
Synonyms:: SMA I; Muscular atrophy, infantile; SMA, infantile acute form; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009669; MedGen: C5848259; OMIM: 253300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029979	OMIM	no assertion criteria provided	Pathogenic (Jul 13, 2004)	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

SCV000029979

OMIM

no assertion criteria provided

Pathogenic
(Jul 13, 2004)

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

Detection of novel mutations in the SMN Tudor domain in type I SMA patients.

Cuscó I, Barceló MJ, del Río E, Baiget M, Tizzano EF.

Neurology. 2004 Jul 13;63(1):146-9.

PubMed [citation]

PMID:: 15249625

Details of each submission

From OMIM, SCV000029979.2

#	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 SMA type I (253300), Cusco et al. (2004) identified a heterozygous 17412C-G transversion in exon 3 of the SMN1 gene, resulting in a gln136-to-glu (Q136E) substitution within the Tudor domain of the protein. The child died at age 3 months. His father carried 1 copy of the SMN1 gene and his mother had 2 copies of the SMN1 gene, one of which carried the Q136E 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: Jun 23, 2024

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