NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 17, 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:: RCV003315171.2

Allele description [Variation Report for NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)]

NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

Preferred name:

NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)

HGVS:

NC_000006.12:g.32039405C>G
NG_007941.3:g.6101C>G
NG_008337.2:g.74970G>C
NG_045215.1:g.1634C>G
NM_000500.9:c.497C>GMANE SELECT
NM_001128590.4:c.407C>G
NM_001368143.2:c.92C>G
NM_001368144.2:c.92C>G
NP_000491.4:p.Ser166Cys
NP_001122062.3:p.Ser136Cys
NP_001355072.1:p.Ser31Cys
NP_001355073.1:p.Ser31Cys
LRG_829t1:c.497C>G
LRG_829:g.6101C>G
LRG_829p1:p.Ser166Cys
NC_000006.11:g.32007182C>G

Protein change:

S136C

Molecular consequence:

NM_000500.9:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128590.4:c.407C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368143.2:c.92C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368144.2:c.92C>G - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004014794	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Likely pathogenic (Apr 17, 2023)	inherited	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004014794

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Likely pathogenic
(Apr 17, 2023)

inherited

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004014794.1

#	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	inherited	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 4, 2024

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