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NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 27, 2020
Accession:
VCV000597806.2
Variation ID:
597806
Description:
single nucleotide variant
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NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)

Allele ID
588867
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218814752 (GRCh38) GRCh38 UCSC
2: 219679475 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.219679475G>A
NC_000002.12:g.218814752G>A
NM_000784.4:c.1471G>A MANE Select NP_000775.1:p.Ala491Thr missense
NG_007959.1:g.38004G>A
Protein change
A491T
Other names
-
Canonical SPDI
NC_000002.12:218814751:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00009
Links
dbSNP: rs72551323
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 26, 2018 RCV000734041.1
Likely benign 1 criteria provided, single submitter Oct 27, 2020 RCV001462205.1
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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
416 439

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 26, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000862152.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Oct 27, 2020)
criteria provided, single submitter
Method: clinical testing
Cholestanol storage disease
Allele origin: germline
Invitae
Accession: SCV001666118.1
Submitted: (Jan 07, 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=CYP27A1 - - - -

Text-mined citations for rs72551323...

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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