NM_000500.9(CYP21A2):c.433del (p.Gln145fs) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 22, 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:: RCV002250931.1

Allele description [Variation Report for NM_000500.9(CYP21A2):c.433del (p.Gln145fs)]

NM_000500.9(CYP21A2):c.433del (p.Gln145fs)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

6p21.33

Genomic location:

Preferred name:

NM_000500.9(CYP21A2):c.433del (p.Gln145fs)

HGVS:

NC_000006.12:g.32039234del
NG_007941.3:g.5930del
NG_008337.2:g.75143del
NG_045215.1:g.1463del
NM_000500.9:c.433delMANE SELECT
NM_001128590.4:c.343del
NM_001368143.2:c.28del
NM_001368144.2:c.28del
NP_000491.4:p.Gln145fs
NP_001122062.3:p.Gln115fs
NP_001355072.1:p.Gln10fs
NP_001355073.1:p.Gln10fs
LRG_829t1:c.433del
LRG_829:g.5930del
LRG_829p1:p.Gln145fs
NC_000006.11:g.32007011del

Protein change:

Q10fs

Links:

dbSNP: rs2151872060

NCBI 1000 Genomes Browser:

rs2151872060

Molecular consequence:

NM_000500.9:c.433del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001128590.4:c.343del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368143.2:c.28del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368144.2:c.28del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV002521149	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 22, 2022)	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

SCV002521149

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 22, 2022)

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	1	not provided	not provided	1	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 3billion, SCV002521149.1

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

Description

The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Patient's phenotype is considered compatiblie with this disorder. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Dec 24, 2023

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