NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) AND Kugelberg-Welander disease

Clinical significance:Likely pathogenic (Last evaluated: Mar 3, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000009736.4

Allele description [Variation Report for NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)]

NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)

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.785G>T (p.Ser262Ile)
HGVS:
  • NC_000005.10:g.70946127G>T
  • NG_008691.1:g.26187G>T
  • NM_000344.3:c.785G>T
  • NM_000344.4:c.785G>TMANE SELECT
  • NM_001297715.1:c.785G>T
  • NM_022874.2:c.689G>T
  • NP_000335.1:p.Ser262Ile
  • NP_000335.1:p.Ser262Ile
  • NP_001284644.1:p.Ser262Ile
  • NP_075012.1:p.Ser230Ile
  • LRG_676t1:c.785G>T
  • LRG_676:g.26187G>T
  • LRG_676p1:p.Ser262Ile
  • NC_000005.9:g.70241954G>T
  • Q16637:p.Ser262Ile
Protein change:
S230I; SER262ILE
Links:
UniProtKB: Q16637#VAR_005616; OMIM: 600354.0003; dbSNP: rs1554066659
NCBI 1000 Genomes Browser:
rs1554066659
Molecular consequence:
  • NM_000344.3:c.785G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000344.4:c.785G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297715.1:c.785G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022874.2:c.689G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029957OMIMno assertion criteria providedPathogenic
(May 1, 1997)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000924377Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Childrencriteria provided, single submitter
Likely pathogenic
(Mar 3, 2016)
maternal, unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownno1not providednot provided1not providedclinical testing
not providedmaternalyes1not providednot provided1not providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

Hahnen E, Schönling J, Rudnik-Schöneborn S, Raschke H, Zerres K, Wirth B.

Hum Mol Genet. 1997 May;6(5):821-5.

PubMed [citation]
PMID:
9158159

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000029957.2

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

Description

In a patient of Australian origin with SMA type III (253400), Hahnen et al. (1997) identified an AGT-to-ATT transversion in codon 262 of the SMN1 gene,resulting in a ser262-to-ile (S262I) amino acid substitution. The nonsense mutation was inherited from the father. The other allele was apparently the deleted SMN.

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

From Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children, SCV000924377.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
2not provided1not providednot providedclinical testing PubMed (2)

Description

intermittent falls as a child, pain in legs upon climbing stairs, required use of upper extremities to stand from seated poistion, wheelchair dependent by 17 years old, upper and lower extremity weakness

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided
2unknownno1not providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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