NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr) AND Autosomal recessive congenital ichthyosis 5

Germline classification:: Pathogenic (1 submission)
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:: RCV000678403.2

Allele description [Variation Report for NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr)]

NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr)

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.917T>C (p.Ile306Thr)

HGVS:

NC_000019.10:g.15540695T>C
NG_007987.1:g.37171T>C
NM_173483.4:c.917T>CMANE SELECT
NP_775754.2:p.Ile306Thr
NC_000019.9:g.15651506T>C
NM_173483.3:c.917T>C

Protein change:

I306T

Links:

dbSNP: rs370734976

NCBI 1000 Genomes Browser:

rs370734976

Molecular consequence:

NM_173483.4:c.917T>C - 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
SCV000804474	Institute for Human Genetics, University Medical Center 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

SCV000804474

Institute for Human Genetics, University Medical Center 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

Citations

PubMed

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Hotz A, Bourrat E, Küsel J, Oji V, Alter S, Hake L, Korbi M, Ott H, Hausser I, Zimmer AD, Fischer J.

Hum Mutat. 2018 Oct;39(10):1305-1313. doi: 10.1002/humu.23594. Epub 2018 Aug 7.

PubMed [citation]

PMID:: 30011118

Details of each submission

From Institute for Human Genetics, University Medical Center Freiburg, SCV000804474.1

#	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: Dec 24, 2022

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