U.S. flag

An official website of the United States government

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

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

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