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NM_000784.4(CYP27A1):c.792G>A (p.Val264=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000287206.6
Variation ID:
287206
Description:
single nucleotide variant
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NM_000784.4(CYP27A1):c.792G>A (p.Val264=)

Allele ID
271443
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218812697 (GRCh38) GRCh38 UCSC
2: 219677420 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.219677420G>A
NC_000002.12:g.218812697G>A
NM_000784.4:c.792G>A MANE Select NP_000775.1:p.Val264= synonymous
NG_007959.1:g.35949G>A
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:218812696:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD), exomes 0.00025
Exome Aggregation Consortium (ExAC) 0.00026
Trans-Omics for Precision Medicine (TOPMed) 0.00037
Links
ClinGen: CA2112718
dbSNP: rs144018609
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Mar 25, 2016 RCV000284553.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Dec 4, 2020 RCV000265806.5
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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
Benign
(Mar 25, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000340909.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.genome.med.kyoto-u.ac…
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Cholestanol storage disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000427471.3
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)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Cholestanol storage disease
Allele origin: germline
Invitae
Accession: SCV001065456.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 25, 2020)
no assertion criteria provided
Method: clinical testing
Cerebrotendinous xanthomatosis
Allele origin: germline
Natera, Inc.
Accession: SCV001462722.1
Submitted: (Dec 28, 2020)
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 rs144018609...

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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 Jun 14, 2021