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NM_173483.3(CYP4F22):c.1303C>T (p.His435Tyr)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jan 29, 2019)
Last evaluated:
Nov 7, 2016
Accession:
VCV000000909.2
Variation ID:
909
Description:
single nucleotide variant
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NM_173483.3(CYP4F22):c.1303C>T (p.His435Tyr)

Allele ID
15948
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.12
Genomic location
19: 15549170 (GRCh38) GRCh38 UCSC
19: 15659981 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.15659981C>T
NC_000019.10:g.15549170C>T
NM_173483.3:c.1303C>T NP_775754.2:p.His435Tyr missense
... more HGVS
Protein change
H435Y
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00008
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00006
Links
OMIM: 611495.0001
dbSNP: rs118203935
UniProtKB: Q6NT55#VAR_037444
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 7, 2016 RCV000412942.1
Pathogenic 2 no assertion criteria provided Apr 23, 2018 RCV000000957.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP4F22 - - GRCh38
GRCh37
98 110

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 07, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000490953.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The H435Y pathogenic variant in the CYP4F22 gene has been reported previously in the homozygous state in patients with autosomal recessive congenital ichthyosis (Lefevre et ... (more)
Pathogenic
(Mar 01, 2006)
no assertion criteria provided
Method: literature only
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
Allele origin: germline
OMIM
Accession: SCV000021107.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Apr 23, 2018)
no assertion criteria provided
Method: clinical testing
Autosomal recessive congenital ichthyosis 5
Allele origin: germline
Institute for Human Genetics,University Clinic Freiburg
Accession: SCV000804497.1
Submitted: (Apr 26, 2018)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Lefèvre C Human molecular genetics 2006 PMID: 16436457

Record last updated Jun 20, 2019