NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter) AND Hereditary acrodermatitis enteropathica

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 2, 2021
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:: RCV001831381.1

Allele description [Variation Report for NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter)]

NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter)

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.1203G>A (p.Trp401Ter)

HGVS:

NC_000008.11:g.144414042C>T
NG_012234.2:g.7849G>A
NM_001374839.1:c.921G>A
NM_017767.3:c.1128G>A
NM_130849.4:c.1203G>AMANE SELECT
NP_001361768.1:p.Trp307Ter
NP_060237.3:p.Trp376Ter
NP_570901.3:p.Trp401Ter
NC_000008.10:g.145639426C>T

Protein change:

W307*

Links:

dbSNP: rs200482978

NCBI 1000 Genomes Browser:

rs200482978

Molecular consequence:

NM_001374839.1:c.921G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_017767.3:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_130849.4:c.1203G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002083114	Natera, Inc.	no assertion criteria provided	Pathogenic (Apr 2, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002083114

Natera, Inc.

no assertion criteria provided

Pathogenic
(Apr 2, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002083114.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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