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NM_017411.4(SMN2):c.835-1897C>T AND Werdnig-Hoffmann disease

Germline classification:
Uncertain significance (1 submission)
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:
RCV001644988.2

Allele description [Variation Report for NM_017411.4(SMN2):c.835-1897C>T]

NM_017411.4(SMN2):c.835-1897C>T

Gene:
SMN2:survival of motor neuron 2, centromeric [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.2
Genomic location:
Preferred name:
NM_017411.4(SMN2):c.835-1897C>T
HGVS:
  • NC_000005.10:g.70074624C>T
  • NG_008728.1:g.30102C>T
  • NM_017411.4:c.835-1897C>TMANE SELECT
  • NM_022875.3:c.835-2395C>T
  • NM_022876.2:c.739-1897C>T
  • NM_022877.2:c.739-2395C>T
  • LRG_677t1:c.835-1897C>T
  • LRG_677t2:c.835-2395C>T
  • LRG_677:g.30102C>T
  • NC_000005.9:g.69370451C>T
Links:
dbSNP: rs1381625877
NCBI 1000 Genomes Browser:
rs1381625877
Molecular consequence:
  • NM_017411.4:c.835-1897C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022875.3:c.835-2395C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022876.2:c.739-1897C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022877.2:c.739-2395C>T - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
Unknown function

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
SCV001519037Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron
no assertion criteria provided
Uncertain significanceinheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM.

Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20.

PubMed [citation]
PMID:
30788592
PMCID:
PMC6503527

Details of each submission

From Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron, SCV001519037.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024