NM_000271.4(NPC1):c.3467A>G (p.Asn1156Ser) AND Niemann-Pick disease type C1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 1, 2016
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:: RCV000003093.2

Allele description

NM_000271.4(NPC1):c.3467A>G (p.Asn1156Ser)

Gene:

NPC1:NPC intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

Preferred name:

NM_000271.4(NPC1):c.3467A>G (p.Asn1156Ser)

HGVS:

NC_000018.10:g.23535479T>C
NG_012795.1:g.56139A>G
NM_000271.4:c.3467A>G
NP_000262.2:p.Asn1156Ser
NC_000018.9:g.21115443T>C
NM_000271.3:c.3467A>G
NP_000262.1:p.Asn1156Ser
O15118:p.Asn1156Ser

Protein change:

N1156S; ASN1156SER

Links:

UniProtKB: O15118#VAR_008838; OMIM: 607623.0003; dbSNP: rs28942105

NCBI 1000 Genomes Browser:

rs28942105

Molecular consequence:

NM_000271.4:c.3467A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Niemann-Pick disease type C1 (NPC1)
Synonyms:: NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY; NIEMANN-PICK DISEASE, VARIANT TYPE C1
Identifiers:: MedGen: C3179455; Orphanet: 646; OMIM: 257220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023251	OMIM	no assertion criteria provided	Pathogenic (Jul 11, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000297806	Shendure Lab,University of Washington	no assertion criteria provided	Pathogenic (Aug 1, 2016)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023251

OMIM

no assertion criteria provided

Pathogenic
(Jul 11, 1997)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000297806

Shendure Lab,University of Washington

no assertion criteria provided

Pathogenic
(Aug 1, 2016)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, et al.

Science. 1997 Jul 11;277(5323):228-31.

PubMed [citation]

PMID:: 9211849

Details of each submission

From OMIM, SCV000023251.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In each of 2 unrelated NPC disease (257220) patients, Carstea et al. (1997) found compound heterozygosity at the NPC1 locus with one of the mutations being a 3467A-G transition, resulting in an asn1156-to-ser amino acid substitution in the NPC1 protein. The authors noted that asn1156 is conserved in human, mouse, C. elegans, and S. cerevisiae orthologs of NPC1.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Shendure Lab,University of Washington, SCV000297806.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

patient had late-onset NPC

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2019

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