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NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer) AND Niemann-Pick disease, type A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 26, 2016
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:
RCV000410791.2

Allele description [Variation Report for NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer)]

NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer)

Gene:
SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer)
HGVS:
  • NC_000011.10:g.6391484_6391485del
  • NG_011780.1:g.6060_6061del
  • NM_000543.5:c.419_420delMANE SELECT
  • NM_001007593.3:c.416_417del
  • NM_001318087.2:c.419_420del
  • NM_001318088.2:c.-543_-542del
  • NM_001365135.2:c.419_420del
  • NP_000534.3:p.Leu139_Phe140insTer
  • NP_001007594.2:p.Leu138_Phe139insTer
  • NP_001305016.1:p.Leu139_Phe140insTer
  • NP_001352064.1:p.Leu139_Phe140insTer
  • NC_000011.9:g.6412714_6412715del
  • NM_000543.4:c.419_420delTT
  • NR_027400.3:n.544_545del
  • NR_134502.2:n.544_545del
Links:
dbSNP: rs1057517086
NCBI 1000 Genomes Browser:
rs1057517086
Molecular consequence:
  • NM_001318088.2:c.-543_-542del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_027400.3:n.544_545del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134502.2:n.544_545del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000543.5:c.419_420del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001007593.3:c.416_417del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318087.2:c.419_420del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001365135.2:c.419_420del - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000486726Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Jul 26, 2016) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

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, SCV000486726.2

#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