NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu) AND Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2008
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:: RCV000019075.28

Allele description [Variation Report for NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu)]

NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu)

Gene:

CYP11A1:cytochrome P450 family 11 subfamily A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu)

HGVS:

NC_000015.10:g.74338761A>T
NG_007973.1:g.33981T>A
NM_000781.3:c.1244T>AMANE SELECT
NM_001099773.2:c.770T>A
NP_000772.2:p.Val415Glu
NP_001093243.1:p.Val257Glu
NC_000015.9:g.74631102A>T
P05108:p.Val415Glu

Protein change:

V257E; VAL415GLU

Links:

UniProtKB: P05108#VAR_065244; OMIM: 118485.0008; dbSNP: rs121912814

NCBI 1000 Genomes Browser:

rs121912814

Molecular consequence:

NM_000781.3:c.1244T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001099773.2:c.770T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Synonyms:: P450scc DEFICIENCY; Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete; Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Identifiers:: MONDO: MONDO:0013400; MedGen: C3151055; Orphanet: 168558; OMIM: 613743

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039362	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2008)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039362

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2008)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.

Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL.

J Clin Endocrinol Metab. 2008 Mar;93(3):696-702. doi: 10.1210/jc.2007-2330. Epub 2008 Jan 8.

PubMed [citation]

PMID:: 18182448
PMCID:: PMC2266942

Details of each submission

From OMIM, SCV000039362.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the val415-to-glu (V415E) mutation in the CYP11A1 gene that was found in compound heterozygous state in a patient with 46,XY sex reversal and adrenal insufficiency (613743) by Kim et al. (2008), see 118485.0007.

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

Last Updated: Jun 17, 2024

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