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NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 28, 2024
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:
RCV004800536.1

Allele description [Variation Report for NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu)]

NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu)

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.912C>A (p.Asp304Glu)
HGVS:
  • NC_000019.10:g.15540690C>A
  • NG_007987.1:g.37166C>A
  • NM_173483.4:c.912C>AMANE SELECT
  • NP_775754.2:p.Asp304Glu
  • NC_000019.9:g.15651501C>A
  • NM_173483.3:c.912C>A
Protein change:
D304E
Links:
dbSNP: rs1159994392
NCBI 1000 Genomes Browser:
rs1159994392
Molecular consequence:
  • NM_173483.4:c.912C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005421964Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 28, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.

Hake L, Süßmuth K, Komlosi K, Kopp J, Drerup C, Metze D, Traupe H, Hausser I, Eckl KM, Hennies HC, Fischer J, Oji V.

J Eur Acad Dermatol Venereol. 2022 Apr;36(4):582-591. doi: 10.1111/jdv.17873. Epub 2022 Jan 13.

PubMed [citation]
PMID:
34908195

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005421964.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: CYP4F22 c.912C>A (p.Asp304Glu) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248052 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.912C>A has been reported in the literature in an individual affected with Lamellar Ichthyosis (Hotz_2018, Hake_2022). These report(s) do not provide unequivocal conclusions about association of the variant with Lamellar Ichthyosis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 34908195, 30011118). ClinVar contains an entry for this variant (Variation ID: 560323). Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025