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NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn) AND Sphingomyelin/cholesterol lipidosis

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000192228.11

Allele description [Variation Report for NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)]

NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)

Gene:
SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)
HGVS:
  • NC_000011.10:g.6394445G>C
  • NG_011780.1:g.9021G>C
  • NG_029615.1:g.29970C>G
  • NM_000543.5:c.1734G>CMANE SELECT
  • NM_001007593.3:c.1731G>C
  • NM_001318087.2:c.*227G>C
  • NM_001318088.2:c.813G>C
  • NM_001365135.2:c.1602G>C
  • NP_000534.3:p.Lys578Asn
  • NP_001007594.2:p.Lys577Asn
  • NP_001305017.1:p.Lys271Asn
  • NP_001352064.1:p.Lys534Asn
  • NC_000011.9:g.6415675G>C
  • NM_000543.3:c.1734G>C
  • NR_027400.3:n.1687G>C
  • NR_134502.2:n.1226G>C
  • c.1734G>C (p.Lys578Asn)
  • p.Lys576Asn
Protein change:
K271N
Links:
dbSNP: rs747342458
NCBI 1000 Genomes Browser:
rs747342458
Molecular consequence:
  • NM_001318087.2:c.*227G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000543.5:c.1734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007593.3:c.1731G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318088.2:c.813G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365135.2:c.1602G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027400.3:n.1687G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134502.2:n.1226G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Sphingomyelin/cholesterol lipidosis
Synonyms:
Niemann-Pick disease
Identifiers:
MONDO: MONDO:0001982; MedGen: C0028064

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000238495GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH.

Am J Hum Genet. 2002 Dec;71(6):1413-9. Epub 2002 Oct 4.

PubMed [citation]
PMID:
12369017
PMCID:
PMC378582

Details of each submission

From GeneReviews, SCV000238495.3

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

Description

Found most commonly in persons from Saudi Arabia. Leads to early-onset severe form of Niemann-Pick disease type-A

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

Last Updated: Nov 3, 2024