NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 29, 2022
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:: RCV001233426.7

Allele description [Variation Report for NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)]

NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)

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.217C>T (p.Gln73Ter)

HGVS:

NC_000008.11:g.142879597G>A
NG_007954.1:g.5224C>T
NM_000497.4:c.217C>TMANE SELECT
NM_001026213.1:c.217C>T
NP_000488.3:p.Gln73Ter
NP_000488.3:p.Gln73Ter
NP_001021384.1:p.Gln73Ter
NC_000008.10:g.143961013G>A
NM_000497.3:c.217C>T

Protein change:

Q73*

Links:

dbSNP: rs1554653675

NCBI 1000 Genomes Browser:

rs1554653675

Molecular consequence:

NM_000497.4:c.217C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001026213.1:c.217C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001406019	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 29, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 32850530, 8506298, 26476331, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001406019

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 29, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency.

Zhou Q, Wang D, Wang C, Zheng B, Liu Q, Zhu Z, Jia Z, Gu W.

Front Pediatr. 2020;8:410. doi: 10.3389/fped.2020.00410.

PubMed [citation]

PMID:: 32850530
PMCID:: PMC7396487

Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.

Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, White PC, Pascoe L.

Proc Natl Acad Sci U S A. 1993 May 15;90(10):4552-6.

PubMed [citation]

PMID:: 8506298
PMCID:: PMC46550

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001406019.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557913). This premature translational stop signal has been observed in individual(s) with CYP11B1-related conditions (PMID: 32850530). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln73*) in the CYP11B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331).

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

Last Updated: Feb 25, 2025

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