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NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000362145.6
Variation ID:
362145
Description:
single nucleotide variant
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NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)

Allele ID
308281
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.3
Genomic location
8: 142874434 (GRCh38) GRCh38 UCSC
8: 143955850 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.143955850A>T
NM_000497.3:c.1451T>A NP_000488.3:p.Val484Asp missense
NC_000008.11:g.142874434A>T
... more HGVS
Protein change
V484D, V418D
Other names
-
Canonical SPDI
NC_000008.11:142874433:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00300 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00099
1000 Genomes Project 0.00300
The Genome Aggregation Database (gnomAD) 0.00016
Exome Aggregation Consortium (ExAC) 0.00114
Links
ClinGen: CA4904948
dbSNP: rs374517238
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, multiple submitters, no conflicts Jan 13, 2018 RCV000665161.2
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 1, 2020 RCV000711398.5
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000354829.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP11B1 - - GRCh38
GRCh37
133 457
LOC106799833 - - - GRCh38 - 275

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 20, 2017)
criteria provided, single submitter
Method: clinical testing
Deficiency of steroid 11-beta-monooxygenase
Allele origin: unknown
Counsyl
Accession: SCV000789230.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Likely benign
(Jul 11, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841762.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of steroid 11-beta-monooxygenase
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000472318.3
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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperaldosteronism, familial, type I
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000472319.3
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 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001092215.3
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
Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation. Shammas C Hormones (Athens, Greece) 2016 PMID: 27376426

Text-mined citations for rs374517238...

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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 Nov 10, 2021