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NM_000271.5(NPC1):c.1947+10G>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000092702.8
Variation ID:
92702
Description:
single nucleotide variant
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NM_000271.5(NPC1):c.1947+10G>C

Allele ID
98609
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q11.2
Genomic location
18: 23544950 (GRCh38) GRCh38 UCSC
18: 21124914 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.23544950C>G
NC_000018.9:g.21124914C>G
NG_012795.1:g.46668G>C
NM_000271.5:c.1947+10G>C MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:23544949:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00559 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00561
1000 Genomes Project 0.00559
Links
ClinGen: CA145953
dbSNP: rs71534236
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 4 criteria provided, multiple submitters, no conflicts Dec 6, 2020 RCV000608902.5
Benign 3 criteria provided, single submitter Feb 22, 2013 RCV000078468.6
Benign 2 criteria provided, single submitter Mar 3, 2015 RCV000675571.4
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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 benign
(Jun 20, 2016)
criteria provided, single submitter
Method: clinical testing
Niemann-Pick disease type C1
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745712.1
Submitted: (Apr 09, 2018)
Evidence details
Benign
(Feb 22, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110324.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Niemann-Pick disease type C1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000407877.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Niemann-Pick disease type C1
Allele origin: germline
Invitae
Accession: SCV001013460.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001911431.1
Submitted: (Sep 21, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Niemann-Pick disease type C1
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733765.1
Submitted: (Apr 04, 2018)
Evidence details
Likely benign
(May 10, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000801262.1
Submitted: (May 23, 2018)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808733.1
Submitted: (Aug 24, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001923832.1
Submitted: (Sep 23, 2021)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=NPC1 - - - -

Text-mined citations for rs71534236...

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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 Nov 27, 2021