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NM_006432.4(NPC2):c.27del (p.Leu10fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jan 8, 2013)
Last evaluated:
Jul 22, 2008
Accession:
VCV000021457.1
Variation ID:
21457
Description:
1bp deletion
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NM_006432.4(NPC2):c.27del (p.Leu10fs)

Allele ID
34309
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
14q24.3
Genomic location
14: 74493248 (GRCh38) GRCh38 UCSC
14: 74959951 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.74959951del
NC_000014.9:g.74493248del
NM_001363688.1:c.27del NP_001350617.1:p.Leu10fs frameshift
... more HGVS
Protein change
L10fs
Other names
-
Canonical SPDI
NC_000014.9:74493247:C:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA342110
OMIM: 601015.0005
dbSNP: rs80358267
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Jul 22, 2008 RCV000020645.2
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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
Pathogenic
(Nov 01, 2001)
no assertion criteria provided
Method: literature only
NIEMANN-PICK DISEASE, TYPE C2
Allele origin: germline
OMIM
Accession: SCV000029216.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
pathologic
(Jul 22, 2008)
no assertion criteria provided
Method: curation
Niemann-Pick Disease Type C
Allele origin: not provided
GeneReviews
Accession: SCV000041170.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

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 Disease Type C Patterson M - 2020 PMID: 20301473
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Millat G American journal of human genetics 2001 PMID: 11567215

Text-mined citations for rs80358267...

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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