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NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter) AND Niemann-Pick disease, type A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 15, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000666096.1

Allele description [Variation Report for NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter)]

NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter)

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.1491C>G (p.Tyr497Ter)
HGVS:
  • NC_000011.10:g.6394202C>G
  • NG_011780.1:g.8778C>G
  • NG_029615.1:g.30213G>C
  • NM_000543.5:c.1491C>GMANE SELECT
  • NM_001007593.3:c.1488C>G
  • NM_001318087.2:c.1511C>G
  • NM_001318088.2:c.570C>G
  • NM_001365135.2:c.1359C>G
  • NP_000534.3:p.Tyr497Ter
  • NP_001007594.2:p.Tyr496Ter
  • NP_001305016.1:p.Thr504Ser
  • NP_001305017.1:p.Tyr190Ter
  • NP_001352064.1:p.Tyr453Ter
  • NC_000011.9:g.6415432C>G
  • NM_000543.4:c.1491C>G
  • NR_027400.3:n.1444C>G
  • NR_134502.2:n.983C>G
Protein change:
T504S
Links:
dbSNP: rs1554935439
NCBI 1000 Genomes Browser:
rs1554935439
Molecular consequence:
  • NM_001318087.2:c.1511C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027400.3:n.1444C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134502.2:n.983C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000543.5:c.1491C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001007593.3:c.1488C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318088.2:c.570C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001365135.2:c.1359C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Niemann-Pick disease, type A
Synonyms:
SPHINGOMYELIN LIPIDOSIS; SPHINGOMYELINASE DEFICIENCY
Identifiers:
MONDO: MONDO:0009756; MedGen: C0268242; Orphanet: 77292; OMIM: 257200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000790337Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Mar 15, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Carboxyl-terminal disulfide bond of acid sphingomyelinase is critical for its secretion and enzymatic function.

Lee CY, Tamura T, Rabah N, Lee DY, Ruel I, Hafiane A, Iatan I, Nyholt D, Laporte F, Lazure C, Wada I, Krimbou L, Genest J.

Biochemistry. 2007 Dec 25;46(51):14969-78. Epub 2007 Dec 1.

PubMed [citation]
PMID:
18052040

Details of each submission

From Counsyl, SCV000790337.1

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

Last Updated: Jul 29, 2023