NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His) AND CYP11B2-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 20, 2023
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:: RCV003462640.1

Allele description [Variation Report for NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His)]

NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His)

Genes:

LOC106799834:CYP11B2 recombination region [Gene]
CYP11B2:cytochrome P450 family 11 subfamily B member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His)

HGVS:

NC_000008.11:g.142912585C>T
NG_008374.1:g.10259G>A
NG_046133.1:g.9228C>T
NM_000498.3:c.1343G>AMANE SELECT
NP_000489.3:p.Arg448His
NC_000008.10:g.143994001C>T

Protein change:

R448H

Links:

dbSNP: rs1311444460

NCBI 1000 Genomes Browser:

rs1311444460

Molecular consequence:

NM_000498.3:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: CYP11B2-related disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004190335	Clinical Biochemistry Laboratory, Health Services Laboratory	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 20, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004190335

Clinical Biochemistry Laboratory, Health Services Laboratory

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 20, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Clinical Biochemistry Laboratory, Health Services Laboratory, SCV004190335.1

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

Description

ACMG:PM1 PM2 PP3 PP4

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

Last Updated: Apr 6, 2024

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