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NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 9, 2019
Accession:
VCV000528492.5
Variation ID:
528492
Description:
single nucleotide variant
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NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)

Allele ID
517933
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218782397 (GRCh38) GRCh38 UCSC
2: 219647120 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.219647120T>A
NC_000002.12:g.218782397T>A
NG_007959.1:g.5649T>A
NM_000784.4:c.215T>A MANE Select NP_000775.1:p.Leu72Gln missense
Protein change
L72Q
Other names
-
Canonical SPDI
NC_000002.12:218782396:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00011
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Exome Aggregation Consortium (ExAC) 0.00018
Links
ClinGen: CA2112535
dbSNP: rs138189735
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Dec 9, 2019 RCV000633713.3
Uncertain significance 2 no assertion criteria provided - RCV001579919.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP27A1 - - GRCh38
GRCh37
416 439

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 09, 2019)
criteria provided, single submitter
Method: clinical testing
Cholestanol storage disease
Allele origin: germline
Invitae
Accession: SCV000754985.2
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces leucine with glutamine at codon 72 of the CYP27A1 protein (p.Leu72Gln). The leucine residue is highly conserved and there is a … (more)
Uncertain significance
(Nov 11, 2019)
no assertion criteria provided
Method: clinical testing
Cerebrotendinous xanthomatosis
Allele origin: germline
Natera, Inc.
Accession: SCV001462709.1
Submitted: (Dec 28, 2020)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001809028.1
Submitted: (Aug 24, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
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: SCV001924208.1
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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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 rs138189735...

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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 24, 2021