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NM_006432.4(NPC2):c.436C>T (p.Gln146Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2018)
Last evaluated:
Aug 3, 2017
Accession:
VCV000008485.1
Variation ID:
8485
Description:
single nucleotide variant
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NM_006432.4(NPC2):c.436C>T (p.Gln146Ter)

Allele ID
23524
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q24.3
Genomic location
14: 74480707 (GRCh38) GRCh38 UCSC
14: 74947410 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.74947410G>A
NC_000014.9:g.74480707G>A
NM_001363688.1:c.436C>T NP_001350617.1:p.Gln146Ter nonsense
... more HGVS
Protein change
Q146*
Other names
-
Canonical SPDI
NC_000014.9:74480706:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA254412
OMIM: 601015.0009
dbSNP: rs104894457
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Aug 3, 2017 RCV000009006.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NPC2 - - GRCh38
GRCh37
103 123

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 03, 2017)
criteria provided, single submitter
Method: clinical testing
Niemann-Pick disease, type C2
Allele origin: unknown
Counsyl
Accession: SCV000793043.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (3)
Pathogenic
(Apr 01, 2007)
no assertion criteria provided
Method: literature only
NIEMANN-PICK DISEASE, TYPE C2
Allele origin: germline
OMIM
Accession: SCV000029220.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype. Reunert J JIMD reports 2015 PMID: 25772320
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Verot L Clinical genetics 2007 PMID: 17470133
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Millat G Molecular genetics and metabolism 2005 PMID: 16126423

Text-mined citations for rs104894457...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021