NM_000781.3(CYP11A1):c.835del (p.Ile279fs) AND CYP11A1-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 15, 2024
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:: RCV003409385.5

Allele description [Variation Report for NM_000781.3(CYP11A1):c.835del (p.Ile279fs)]

NM_000781.3(CYP11A1):c.835del (p.Ile279fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_000781.3(CYP11A1):c.835del (p.Ile279fs)

HGVS:

NC_000015.10:g.74343132del
NG_007973.1:g.29610del
NM_000781.3:c.835delMANE SELECT
NM_001099773.2:c.361del
NP_000772.2:p.Ile279fs
NP_001093243.1:p.Ile121fs
NC_000015.9:g.74635473del
NM_000781.2:c.835delA

Protein change:

I121fs

Links:

OMIM: 118485.0004; dbSNP: rs757299093

NCBI 1000 Genomes Browser:

rs757299093

Molecular consequence:

NM_000781.3:c.835del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001099773.2:c.361del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: CYP11A1-related disorder
Synonyms:: CYP11A1-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004113350	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Mar 15, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004113350

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Mar 15, 2024)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004113350.2

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

Description

The CYP11A1 c.835delA variant is predicted to result in a frameshift and premature protein termination (p.Ile279Tyrfs*10). This variant has been reported to be pathogenic for XY sex reversal and adrenal insufficiency (see for example at Hiort et al. 2005. PubMed ID: 15507506; Tee et al. 2013. PubMed ID: 23337730). This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in CYP11A1 are expected to be pathogenic. This variant is interpreted as pathogenic.

#	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

Last Updated: Oct 13, 2024

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