NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp) AND Hereditary acrodermatitis enteropathica

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2002
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:: RCV000003720.3

Allele description [Variation Report for NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)]

NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)

Gene:

SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)

HGVS:

NC_000008.11:g.144414422C>T
NG_012234.2:g.7469G>A
NM_017767.3:c.914G>A
NM_130849.4:c.989G>AMANE SELECT
NP_060237.3:p.Gly305Asp
NP_570901.3:p.Gly330Asp
NC_000008.10:g.145639806C>T

Protein change:

G305D; GLY330ASP

Links:

OMIM: 607059.0009; dbSNP: rs121434291

NCBI 1000 Genomes Browser:

rs121434291

Molecular consequence:

NM_017767.3:c.914G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130849.4:c.989G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary acrodermatitis enteropathica (AEZ)
Synonyms:: Acrodermatitis enteropathica; Acrodermatitis enteropathica zinc deficiency type; Brandt syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008713; MedGen: C0221036; Orphanet: 37; OMIM: 201100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023883	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2002)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11254458, 12032886

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023883

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2002)

germline

literature only

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

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

Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3.

Wang K, Pugh EW, Griffen S, Doheny KF, Mostafa WZ, al-Aboosi MM, el-Shanti H, Gitschier J.

Am J Hum Genet. 2001 Apr;68(4):1055-60. Epub 2001 Mar 12.

PubMed [citation]

PMID:: 11254458
PMCID:: PMC1275625

A novel member of a zinc transporter family is defective in acrodermatitis enteropathica.

Wang K, Zhou B, Kuo YM, Zemansky J, Gitschier J.

Am J Hum Genet. 2002 Jul;71(1):66-73. Epub 2002 May 24.

PubMed [citation]

PMID:: 12032886
PMCID:: PMC419995

Details of each submission

From OMIM, SCV000023883.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In 4 of 6 consanguineous Middle Eastern kindreds in which Wang et al. (2001) had previously mapped acrodermatitis enteropathica (AEZ; 201100) to 8q24.3, Wang et al. (2002) discovered distinct homozygous missense mutations. Three of these mutations involved substitutions of highly conserved amino acids in transmembrane domains. One of these, found in an Egyptian pedigree, was gly330 to asp (G330D), located in exon 6 of the SLC39A4 gene.

#	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: Apr 23, 2022

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