NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 17, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001264086.4

Allele description [Variation Report for NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter)]

NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter)

Genes:

LOC106799833:CYP11B1 recombination region [Gene]
CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter)

HGVS:

NC_000008.11:g.142876370A>C
NG_007954.1:g.8451T>G
NG_046132.1:g.2237A>C
NM_000497.4:c.825T>GMANE SELECT
NM_001026213.1:c.825T>G
NP_000488.3:p.Tyr275Ter
NP_001021384.1:p.Tyr275Ter
NC_000008.10:g.143957786A>C

Protein change:

Y275*

Links:

dbSNP: rs5290

NCBI 1000 Genomes Browser:

rs5290

Molecular consequence:

NM_000497.4:c.825T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001026213.1:c.825T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Deficiency of steroid 11-beta-monooxygenase (CYP11B1)
Synonyms:: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008729; MedGen: C0268292; OMIM: 202010

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001442186	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))	Likely pathogenic (Feb 17, 2020)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001442186

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))

Likely pathogenic
(Feb 17, 2020)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV001442186.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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