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NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000362150.6
Variation ID:
362150
Description:
single nucleotide variant
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NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=)

Allele ID
304510
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.3
Genomic location
8: 142875735 (GRCh38) GRCh38 UCSC
8: 143957151 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.143957151A>C
NC_000008.11:g.142875735A>C
NG_007954.1:g.9086T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:142875734:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.01917 (C)

Allele frequency
1000 Genomes Project 0.01917
The Genome Aggregation Database (gnomAD) 0.02016
Exome Aggregation Consortium (ExAC) 0.00679
Links
ClinGen: CA4905152
dbSNP: rs61752769
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000517718.6
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000304249.2
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000342727.2
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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
Benign
(Dec 05, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613033.2
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperaldosteronism, familial, type I
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000472332.3
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)
Likely benign
(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: SCV000472333.3
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)
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001015553.3
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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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 rs61752769...

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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 Dec 04, 2021