NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 13, 2017
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:: RCV000667792.1

Allele description [Variation Report for NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs)]

NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs)

Genes:

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

Variant type:

Duplication

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs)

HGVS:

NC_000008.11:g.142875275dup
NG_007954.1:g.9546dup
NG_046132.1:g.1142dup
NM_000497.4:c.1159dupMANE SELECT
NM_001026213.1:c.1159dup
NP_000488.3:p.Ser387fs
NP_001021384.1:p.Ser387fs
NC_000008.10:g.143956691dup
NM_000497.3:c.1159dupA

Protein change:

S387fs

Links:

dbSNP: rs1379392398

NCBI 1000 Genomes Browser:

rs1379392398

Molecular consequence:

NM_000497.4:c.1159dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001026213.1:c.1159dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

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cytochrome P450 26A1 isoform 2 [Homo sapiens]
cytochrome P450 26A1 isoform 2 [Homo sapiens]
gi|16933528|ref|NP_476498.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000792296	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jun 13, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792296

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Jun 13, 2017)

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 Counsyl, SCV000792296.1

#	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: Apr 23, 2022

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