NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 28, 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:: RCV003482370.2

Allele description [Variation Report for NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys)]

NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys)

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.143A>G (p.Tyr48Cys)

HGVS:

NC_000006.12:g.32038565A>G
NG_007941.3:g.5261A>G
NG_045215.1:g.794A>G
NM_000500.9:c.143A>GMANE SELECT
NM_001128590.4:c.143A>G
NM_001368143.2:c.-282A>G
NM_001368144.2:c.-192A>G
NP_000491.4:p.Tyr48Cys
NP_001122062.3:p.Tyr48Cys
LRG_829t1:c.143A>G
LRG_829:g.5261A>G
LRG_829p1:p.Tyr48Cys
NC_000006.11:g.32006342A>G
NM_000500.7:c.143A>G

Protein change:

Y48C

Links:

dbSNP: rs566306310

NCBI 1000 Genomes Browser:

rs566306310

Molecular consequence:

NM_001368143.2:c.-282A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001368144.2:c.-192A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000500.9:c.143A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128590.4:c.143A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004229567	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Sep 28, 2022)	unknown	clinical testing	PubMed (6) [See all records that cite these PMIDs] 17598208, 34718183, 33017824, 27966633, 23359706, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004229567

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Sep 28, 2022)

unknown

clinical testing

PubMed (6)
[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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Gene symbol: CYP21A2.

Tardy VT.

Hum Genet. 2007 Apr;121(2):293. No abstract available.

PubMed [citation]

PMID:: 17598208

Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.

Ravichandran L, Korula S, Asha HS, Varghese D, Parthiban R, Johnson J, Ishwarya J, Shetty S, Cherian KE, Jebasingh F, Kapoor N, Pachat D, Mathai S, Simon A, Rajaratnam S, Paul TV, Thomas N, Chapla A.

Eur J Med Genet. 2021 Dec;64(12):104369. doi: 10.1016/j.ejmg.2021.104369. Epub 2021 Oct 27.

PubMed [citation]

PMID:: 34718183

See all PubMed Citations (6)

Details of each submission

From Athena Diagnostics, SCV004229567.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with nonclassic congenital adrenal hyperplasia. In some published literature, this variant is referred to as p.Try47Cys. Computational tools predict that this variant is damaging.

#	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: Jan 19, 2025

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