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NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 2, 2020
Accession:
VCV000761874.6
Variation ID:
761874
Description:
single nucleotide variant
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NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)

Allele ID
762930
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218812607 (GRCh38) GRCh38 UCSC
2: 219677330 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.219677330C>T
NC_000002.12:g.218812607C>T
NM_000784.4:c.702C>T MANE Select NP_000775.1:p.Pro234= synonymous
NG_007959.1:g.35859C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:218812606:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
dbSNP: rs371636461
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 23, 2019 RCV000939958.3
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Nov 2, 2020 RCV001087934.4
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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
Likely benign
(Apr 23, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144858.1
Submitted: (Sep 25, 2019)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Cholestanol storage disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001301373.1
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)
Likely benign
(Nov 02, 2020)
criteria provided, single submitter
Method: clinical testing
Cholestanol storage disease
Allele origin: germline
Invitae
Accession: SCV001085814.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 24, 2020)
no assertion criteria provided
Method: clinical testing
Cerebrotendinous xanthomatosis
Allele origin: germline
Natera, Inc.
Accession: SCV001462719.1
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.

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 rs371636461...

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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 06, 2021