NM_000500.9(CYP21A2):c.293-131_293-129dup AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 24, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000984561.2

Allele description [Variation Report for NM_000500.9(CYP21A2):c.293-131_293-129dup]

NM_000500.9(CYP21A2):c.293-131_293-129dup

Genes:

LOC106780800:CYP21A2 recombination region [Gene]
CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6p21.33

Genomic location:

Preferred name:

NM_000500.9(CYP21A2):c.293-131_293-129dup

HGVS:

NC_000006.12:g.32038963_32038965dup
NG_007941.3:g.5659_5661dup
NG_045215.1:g.1192_1194dup
NM_000500.9:c.293-131_293-129dupMANE SELECT
NM_001128590.4:c.203-131_203-129dup
NM_001368143.2:c.-132-112_-132-110dup
NM_001368144.2:c.-132-112_-132-110dup
LRG_829t1:c.293-131_293-129dup
LRG_829:g.5659_5661dup
NC_000006.11:g.32006740_32006742dup
NM_000500.7:c.293-131_293-129dup

Links:

dbSNP: rs1219292422

NCBI 1000 Genomes Browser:

rs1219292422

Molecular consequence:

NM_000500.9:c.293-131_293-129dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001128590.4:c.203-131_203-129dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001368143.2:c.-132-112_-132-110dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001368144.2:c.-132-112_-132-110dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Synonyms:: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; CYP21 deficiency; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Identifiers:: MONDO: MONDO:0008728; MedGen: C2936858; Orphanet: 90794; OMIM: 201910

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001132619	Institute of Human Genetics, Medical University Innsbruck	no assertion criteria provided	Uncertain significance (May 24, 2019)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001132619

Institute of Human Genetics, Medical University Innsbruck

no assertion criteria provided

Uncertain significance
(May 24, 2019)

unknown

clinical testing

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 Institute of Human Genetics, Medical University Innsbruck, SCV001132619.1

#	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: Nov 11, 2023

ClinVar

Relating variation to medicine