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NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Apr 14, 2015)
Last evaluated:
Dec 1, 2014
Accession:
VCV000183278.1
Variation ID:
183278
Description:
single nucleotide variant
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NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)

Allele ID
181406
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218814623 (GRCh38) GRCh38 UCSC
2: 219679346 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.219679346C>T
NC_000002.12:g.218814623C>T
NM_000784.4:c.1342C>T MANE Select NP_000775.1:p.Arg448Cys missense
NG_007959.1:g.37875C>T
Protein change
R448C
Other names
-
Canonical SPDI
NC_000002.12:218814622:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA186041
dbSNP: rs730882199
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 no assertion criteria provided Dec 1, 2014 RCV000162100.1
Likely pathogenic 1 no assertion criteria provided - RCV000171331.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP27A1 - - GRCh38
GRCh37
415 438

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 01, 2014)
no assertion criteria provided
()
Method: research
Regression of motor development with severe dystonia and corresponding basal ganglia lesions
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV000196385.1
Submitted: (Dec 30, 2014)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Not provided
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV000221528.1
Submitted: (Apr 14, 2015)
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
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Alazami AM Cell reports 2015 PMID: 25558065

Text-mined citations for rs730882199...

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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 Oct 27, 2019