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NM_000344.4(SMN1):c.399_402del (p.Glu134fs) AND Werdnig-Hoffmann disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2003
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:
RCV000009748.2

Allele description [Variation Report for NM_000344.4(SMN1):c.399_402del (p.Glu134fs)]

NM_000344.4(SMN1):c.399_402del (p.Glu134fs)

Gene:
SMN1:survival of motor neuron 1, telomeric [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5q13.2
Genomic location:
Preferred name:
NM_000344.4(SMN1):c.399_402del (p.Glu134fs)
HGVS:
  • NC_000005.10:g.70942481AG[1]
  • NG_008691.1:g.22541AG[1]
  • NM_000344.4:c.399_402delMANE SELECT
  • NM_001297715.1:c.399_402del
  • NM_022874.2:c.399_402del
  • NP_000335.1:p.Glu134fs
  • NP_001284644.1:p.Glu134fs
  • NP_075012.1:p.Glu134fs
  • LRG_676:g.22541AG[1]
  • NC_000005.9:g.70238308AG[1]
  • NM_000344.3:c.399_402delAGAG
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
E134fs
Links:
OMIM: 600354.0011; dbSNP: rs77668214
NCBI 1000 Genomes Browser:
rs77668214
Molecular consequence:
  • NM_000344.4:c.399_402del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001297715.1:c.399_402del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_022874.2:c.399_402del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029969OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2003) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al.

Nat Genet. 1995 Nov;11(3):335-7.

PubMed [citation]
PMID:
7581461

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.

Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF.

Hum Mutat. 2003 Aug;22(2):136-43.

PubMed [citation]
PMID:
12872254

Details of each submission

From OMIM, SCV000029969.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Bussaglia et al. (1995) described a 4-bp frameshift deletion in exon 3 of the SMN1 gene, codon 133delAGAG, in Spanish spinal muscular atrophy patients. Cusco et al. (2003) identified the mutation, which was easily detectable by SSCP analysis, in 10 of 369 (approximately 3%) Spanish SMA families. Among 14 patients with the 4-bp deletion (del399-402), 1 had SMA type I (253300), 3 had SMA type II (253550) (1 of early onset), 8 had SMA type III (253400) (2 of early onset), and 2 had SMA type IV (271150). The authors noted that approximately 3% of Spanish SMA families have the 4-bp deletion in the SMN1 gene.

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

Last Updated: Jun 23, 2024