NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) AND Autosomal recessive congenital ichthyosis 5

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 23, 2018
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:: RCV000000959.2

Allele description

NM_173483.4(CYP4F22):c.728G>A (p.Arg243His)

Gene:

CYP4F22:cytochrome P450 family 4 subfamily F member 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.12

Genomic location:

Preferred name:

NM_173483.4(CYP4F22):c.728G>A (p.Arg243His)

HGVS:

NC_000019.10:g.15540506G>A
NG_007987.1:g.36982G>A
NM_173483.4:c.728G>AMANE SELECT
NP_775754.2:p.Arg243His
NC_000019.9:g.15651317G>A
NM_173483.3:c.728G>A
Q6NT55:p.Arg243His

Protein change:

R243H; ARG243HIS

Links:

UniProtKB: Q6NT55#VAR_037442; OMIM: 611495.0003; dbSNP: rs118203937

NCBI 1000 Genomes Browser:

rs118203937

Molecular consequence:

NM_173483.4:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive congenital ichthyosis 5 (ARCI5)
Synonyms:: Lamellar ichthyosis, type 3; Ichthyosis congenita III; Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive
Identifiers:: Gene: 50992; MONDO: MONDO:0011485; MedGen: C1858133; Orphanet: 313; OMIM: 604777

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021109	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000804493	Institute for Human Genetics,University Clinic Freiburg	no assertion criteria provided	Pathogenic (Apr 23, 2018)	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

SCV000021109

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2006)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000804493

Institute for Human Genetics,University Clinic Freiburg

no assertion criteria provided

Pathogenic
(Apr 23, 2018)

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	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

Lefèvre C, Bouadjar B, Ferrand V, Tadini G, Mégarbané A, Lathrop M, Prud'homme JF, Fischer J.

Hum Mol Genet. 2006 Mar 1;15(5):767-76. Epub 2006 Jan 25.

PubMed [citation]

PMID:: 16436457

Details of each submission

From OMIM, SCV000021109.1

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

Description

In a consanguineous Algerian family with autosomal recessive congenital ichthyosis (ARCI5; 604777) of the lamellar type, Lefevre et al. (2006) identified homozygosity for a 728G-A transition in exon 6 of the CYP4F22 gene, resulting in an arg243-to-his (R243H) substitution in a highly conserved region of the protein.

#	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

From Institute for Human Genetics,University Clinic Freiburg, SCV000804493.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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