NM_000781.3(CYP11A1):c.1351C>T (p.Arg451Trp) 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:: Sep 17, 2021
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:: RCV001794855.2

Allele description [Variation Report for NM_000781.3(CYP11A1):c.1351C>T (p.Arg451Trp)]

NM_000781.3(CYP11A1):c.1351C>T (p.Arg451Trp)

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.1351C>T (p.Arg451Trp)

HGVS:

NC_000015.10:g.74338654G>A
NG_007973.1:g.34088C>T
NM_000781.3:c.1351C>TMANE SELECT
NM_001099773.2:c.877C>T
NP_000772.2:p.Arg451Trp
NP_001093243.1:p.Arg293Trp
NC_000015.9:g.74630995G>A

Protein change:

R293W

Links:

dbSNP: rs775102947

NCBI 1000 Genomes Browser:

rs775102947

Molecular consequence:

NM_000781.3:c.1351C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001099773.2:c.877C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

effect on protein activity [Variation Ontology: 0053]

Observations:

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
SCV002032371	Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 17, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21880796, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002032371

Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 17, 2021)

germline

clinical testing

PubMed (2)
[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	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).

Parajes S, Kamrath C, Rose IT, Taylor AE, Mooij CF, Dhir V, Grötzinger J, Arlt W, Krone N.

J Clin Endocrinol Metab. 2011 Nov;96(11):E1798-806. doi: 10.1210/jc.2011-1277. Epub 2011 Aug 31.

PubMed [citation]

PMID:: 21880796

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 Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002032371.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (2)

#	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: Sep 29, 2024

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