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

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
May 16, 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:
RCV000666977.3

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

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

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000791358Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(May 16, 2017) 		unknownclinical testing

Citation Link,

SCV002091673Natera, Inc.
no assertion criteria provided
Likely pathogenic
(May 5, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000791358.1

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

From Natera, Inc., SCV002091673.1

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

Last Updated: Sep 29, 2024