NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) AND not provided

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jan 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000711383.6

Allele description [Variation Report for NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu)]

NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu)

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.552C>G (p.Asp184Glu)

HGVS:

NC_000006.12:g.32039548C>G
NG_007941.3:g.6244C>G
NG_008337.2:g.74827G>C
NG_045215.1:g.1777C>G
NM_000500.9:c.552C>GMANE SELECT
NM_001128590.4:c.462C>G
NM_001368143.2:c.147C>G
NM_001368144.2:c.147C>G
NP_000491.4:p.Asp184Glu
NP_001122062.3:p.Asp154Glu
NP_001355072.1:p.Asp49Glu
NP_001355073.1:p.Asp49Glu
LRG_829t1:c.552C>G
LRG_829:g.6244C>G
LRG_829p1:p.Asp184Glu
NC_000006.11:g.32007325C>G
NM_000500.5:c.552C>G
NM_000500.7:c.552C>G

Protein change:

D154E

Links:

dbSNP: rs397515531

NCBI 1000 Genomes Browser:

rs397515531

Molecular consequence:

NM_000500.9:c.552C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128590.4:c.462C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368143.2:c.147C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368144.2:c.147C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000841746	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Apr 5, 2018)	germline	clinical testing	PubMed (15) [See all records that cite these PMIDs] 16487445, 18039588, 1869518, 20970527, 24071710, 29074860, 27890570, 24503005, 23936690, 29266270, 29450859, 19505723, 25227725, 22156666, 26467025
SCV004156218	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jan 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000841746

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Apr 5, 2018)

germline

clinical testing

PubMed (15)
[See all records that cite these PMIDs]

SCV004156218

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jan 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.

Loidi L, Quinteiro C, Parajes S, Barreiro J, Lestón DG, Cabezas-Agrícola JM, Sueiro AM, Araujo-Vilar D, Catro-Feijóo L, Costas J, Pombo M, Domínguez F.

Clin Endocrinol (Oxf). 2006 Mar;64(3):330-6.

PubMed [citation]

PMID:: 16487445

Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.

Lee HH, Lee YJ, Wang YM, Chao HT, Niu DM, Chao MC, Tsai FJ, Lo FS, Lin SJ.

Mol Genet Metab. 2008 Apr;93(4):450-7. Epub 2007 Nov 26.

PubMed [citation]

PMID:: 18039588

See all PubMed Citations (15)

Details of each submission

From Athena Diagnostics Inc, SCV000841746.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (15)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004156218.4

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

Description

CYP21A2: BP4, BS2

#	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		1	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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