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NM_000543.5(SMPD1):c.318+2T>A AND Niemann-Pick disease, type A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 26, 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:
RCV000667966.1

Allele description [Variation Report for NM_000543.5(SMPD1):c.318+2T>A]

NM_000543.5(SMPD1):c.318+2T>A

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.318+2T>A
HGVS:
  • NC_000011.10:g.6390918T>A
  • NG_011780.1:g.5494T>A
  • NM_000543.5:c.318+2T>AMANE SELECT
  • NM_001007593.3:c.318+2T>A
  • NM_001318087.2:c.318+2T>A
  • NM_001318088.2:c.-644+2T>A
  • NM_001365135.2:c.318+2T>A
  • NC_000011.9:g.6412148T>A
  • NM_000543.4:c.318+2T>A
Links:
dbSNP: rs1225462507
NCBI 1000 Genomes Browser:
rs1225462507
Molecular consequence:
  • NM_000543.5:c.318+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001007593.3:c.318+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318087.2:c.318+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318088.2:c.-644+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001365135.2:c.318+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000792498Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Jun 26, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000792498.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023