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NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 28, 2018)
Last evaluated:
Dec 1, 2016
Accession:
VCV000547890.1
Variation ID:
547890
Description:
single nucleotide variant
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NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter)

Allele ID
538475
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q11.2
Genomic location
18: 23539981 (GRCh38) GRCh38 UCSC
18: 21119945 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.9:g.21119945A>C
NC_000018.10:g.23539981A>C
NM_000271.5:c.2625T>G MANE Select NP_000262.2:p.Tyr875Ter nonsense
NG_012795.1:g.51637T>G
Protein change
Y875*
Other names
-
Canonical SPDI
NC_000018.10:23539980:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555633361
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Dec 1, 2016 RCV000660448.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NPC1 - - GRCh38
GRCh37
1038 1083

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 01, 2016)
criteria provided, single submitter
Method: clinical testing
Niemann-Pick disease type C1
Allele origin: maternal
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000782541.1
Submitted: (Feb 28, 2018)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1555633361...

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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 May 19, 2021