NM_000271.5(NPC1):c.1800del (p.Ile601fs) AND Niemann-Pick disease, type C1

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Feb 21, 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:: RCV000119328.1

Allele description [Variation Report for NM_000271.5(NPC1):c.1800del (p.Ile601fs)]

NM_000271.5(NPC1):c.1800del (p.Ile601fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

18q11.2

Genomic location:

Preferred name:

NM_000271.5(NPC1):c.1800del (p.Ile601fs)

HGVS:

NC_000018.10:g.23545108del
NG_012795.1:g.46511del
NM_000271.5:c.1800delMANE SELECT
NP_000262.2:p.Ile601fs
NC_000018.9:g.21125072del
NM_000271.4:c.1800delC

Protein change:

I601fs

Links:

dbSNP: rs483352879

NCBI 1000 Genomes Browser:

rs483352879

Molecular consequence:

NM_000271.5:c.1800del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Niemann-Pick disease, type C1
Synonyms:: NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease, chronic neuronopathic form; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009757; MedGen: C3179455; Orphanet: 646; OMIM: 257220

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Alburnus carinatus isolate Ex19B7 cytochrome oxidase subunit I gene, partial cds...
Alburnus carinatus isolate Ex19B7 cytochrome oxidase subunit I gene, partial cds; mitochondrial
gi|610488146|gb|KJ552425.1|

Nucleotide
HK1 [Rhinolophus ferrumequinum]
HK1 [Rhinolophus ferrumequinum]
Gene ID:117036227

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000154187	Shanghain Institute for Pediatric Research	no assertion criteria provided	pathogenic	germline	not provided
SCV000789754	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Feb 21, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000154187

Shanghain Institute for Pediatric Research

no assertion criteria provided

pathogenic

germline

not provided

SCV000789754

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Feb 21, 2017)

unknown

clinical testing

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

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.

Zhang H, Wang Y, Lin N, Yang R, Qiu W, Han L, Ye J, Gu X.

Orphanet J Rare Dis. 2014 Jun 10;9:82. doi: 10.1186/1750-1172-9-82.

PubMed [citation]

PMID:: 24915861
PMCID:: PMC4059728

Details of each submission

From Shanghain Institute for Pediatric Research, SCV000154187.1

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

Description

Converted during submission to Pathogenic.

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

From Counsyl, SCV000789754.1

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

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

Last Updated: Jun 7, 2022

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