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NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu) AND Niemann-Pick disease, type A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 5, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001829920.1

Allele description [Variation Report for NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu)]

NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu)

Gene:
SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu)
HGVS:
  • NC_000011.10:g.6390704_6390705insCGCTGGCGCTGG
  • NG_011780.1:g.5280_5281insCGCTGGCGCTGG
  • NM_000543.5:c.106_107insCGCTGGCGCTGGMANE SELECT
  • NM_001007593.3:c.106_107insCGCTGGCGCTGG
  • NM_001318087.2:c.106_107insCGCTGGCGCTGG
  • NM_001318088.2:c.-856_-855insCGCTGGCGCTGG
  • NM_001365135.2:c.106_107insCGCTGGCGCTGG
  • NP_000534.3:p.Leu35_Val36insAlaLeuAlaLeu
  • NP_001007594.2:p.Leu35_Val36insAlaLeuAlaLeu
  • NP_001305016.1:p.Leu35_Val36insAlaLeuAlaLeu
  • NP_001352064.1:p.Leu35_Val36insAlaLeuAlaLeu
  • NC_000011.9:g.6411930_6411931insCTGGCGCTGGCG
  • NC_000011.9:g.6411934_6411935insCGCTGGCGCTGG
  • NM_000543.4:c.106_107insCGCTGGCGCTGG
  • NR_027400.3:n.231_232insCGCTGGCGCTGG
  • NR_134502.2:n.231_232insCGCTGGCGCTGG
Links:
dbSNP: rs1554933800
NCBI 1000 Genomes Browser:
rs1554933800
Molecular consequence:
  • NM_001318088.2:c.-856_-855insCGCTGGCGCTGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000543.5:c.106_107insCGCTGGCGCTGG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001007593.3:c.106_107insCGCTGGCGCTGG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001318087.2:c.106_107insCGCTGGCGCTGG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001365135.2:c.106_107insCGCTGGCGCTGG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NR_027400.3:n.231_232insCGCTGGCGCTGG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134502.2:n.231_232insCGCTGGCGCTGG - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002091659Natera, Inc.
no assertion criteria provided
Uncertain significance
(Dec 5, 2018) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002091659.1

#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: Oct 20, 2024