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NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 13, 2020
Accession:
VCV000447228.3
Variation ID:
447228
Description:
single nucleotide variant
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NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)

Allele ID
441178
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.3
Genomic location
8: 142876241 (GRCh38) GRCh38 UCSC
8: 143957657 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.142876241C>T
NG_007954.1:g.8580G>A
NG_046132.1:g.2108C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:142876240:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA463327589
dbSNP: rs753774484
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jun 13, 2020 RCV000516213.2
Likely pathogenic 1 no assertion criteria provided May 30, 2017 RCV000667365.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely pathogenic
(Dec 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613046.1
Submitted: (Aug 17, 2017)
Evidence details
Publications
PubMed (2)
Pathogenic
(Jun 13, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001581360.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change affects codon 318 of the CYP11B1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)
Likely pathogenic
(May 30, 2017)
no assertion criteria provided
Method: clinical testing
Deficiency of steroid 11-beta-monooxygenase
Allele origin: unknown
Counsyl
Accession: SCV000791799.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (2)

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
The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population. Dundar A Molecular biology reports 2019 PMID: 31006099
Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations. Bulsari K Hormones (Athens, Greece) 2018 PMID: 29858860
Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency. Kandemir N The Journal of steroid biochemistry and molecular biology 2017 PMID: 26956189
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098
Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene. Skinner CA The Journal of clinical endocrinology and metabolism 1996 PMID: 8964882

Text-mined citations for rs753774484...

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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