NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr) AND Ichthyosis prematurity syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2009
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:: RCV000006100.4

Allele description [Variation Report for NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr)]

NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr)

Gene:

SLC27A4:solute carrier family 27 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr)

HGVS:

NC_000009.12:g.128345267G>A
NG_017057.1:g.9708G>A
NM_005094.4:c.274G>AMANE SELECT
NP_005085.2:p.Ala92Thr
NC_000009.11:g.131107546G>A
Q6P1M0:p.Ala92Thr

Protein change:

A92T; ALA92THR

Links:

UniProtKB: Q6P1M0#VAR_063192; OMIM: 604194.0003; dbSNP: rs137853132

NCBI 1000 Genomes Browser:

rs137853132

Molecular consequence:

NM_005094.4:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ichthyosis prematurity syndrome (IPS)
Synonyms:: Ichthyosis congenita IV
Identifiers:: MONDO: MONDO:0012089; MedGen: C1837610; Orphanet: 88621; OMIM: 608649

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026282	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2009)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026282

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2009)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Törmä H, Vahlquist A, Bouadjar B, Dahl N, Fischer J.

Am J Hum Genet. 2009 Aug;85(2):248-53. doi: 10.1016/j.ajhg.2009.06.021. Epub 2009 Jul 23.

PubMed [citation]

PMID:: 19631310
PMCID:: PMC2725242

Details of each submission

From OMIM, SCV000026282.3

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

Description

In affected members of Scandinavian families segregating ichthyosis prematurity syndrome (IPS; 608649), Klar et al. (2009) identified compound heterozygosity for mutations in the SLC27A4 gene: C168X (604194.0001) and a c.274G-A transition in exon 3, resulting in an ala92-to-thr (A92T) substitution.

#	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

Last Updated: Dec 9, 2023

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