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NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 5, 2021)
Last evaluated:
May 12, 2021
Accession:
VCV000235359.7
Variation ID:
235359
Description:
single nucleotide variant
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NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)

Allele ID
237046
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q11.2
Genomic location
18: 23556337 (GRCh38) GRCh38 UCSC
18: 21136301 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.23556337C>T
NC_000018.9:g.21136301C>T
NG_012795.1:g.35281G>A
NM_000271.5:c.1232G>A MANE Select NP_000262.2:p.Arg411Gln missense
Protein change
R411Q
Other names
-
Canonical SPDI
NC_000018.10:23556336:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00062
The Genome Aggregation Database (gnomAD), exomes 0.00052
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00200
The Genome Aggregation Database (gnomAD) 0.00182
Trans-Omics for Precision Medicine (TOPMed) 0.00205
1000 Genomes Project 0.00339
Links
ClinGen: CA8913512
dbSNP: rs77080672
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts May 12, 2021 RCV000224097.7
Benign 1 criteria provided, single submitter Jun 18, 2015 RCV000390564.1
Likely benign 1 criteria provided, single submitter Dec 3, 2020 RCV001086756.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Aug 28, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000280879.2
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Jun 18, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332338.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Likely benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Niemann-Pick disease type C1
Allele origin: germline
Invitae
Accession: SCV001118341.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 12, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001773173.1
Submitted: (Aug 05, 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.

Text-mined citations for rs77080672...

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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 Sep 29, 2021