NM_001002295.1(GATA3):c.829C>T (p.Arg277Ter) AND Barakat syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 3, 2011
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:: RCV000018102.26

Allele description

NM_001002295.1(GATA3):c.829C>T (p.Arg277Ter)

Gene:

GATA3:GATA binding protein 3 [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

10p14

Genomic location:

Preferred name:

NM_001002295.1(GATA3):c.829C>T (p.Arg277Ter)

HGVS:

NC_000010.11:g.8064043C>T
NG_015859.1:g.14340C>T
NM_001002295.1:c.829C>T
NP_001002295.1:p.Arg277Ter
NC_000010.10:g.8106006C>T

Protein change:

R277*; ARG277TER

Links:

OMIM: 131320.0005; dbSNP: rs104894162

NCBI 1000 Genomes Browser:

rs104894162

Molecular consequence:

NM_001002295.1:c.829C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Barakat syndrome (HDR)
Synonyms:: Hypoparathyroidism, sensorineural deafness, and renal dysplasia; HDR syndrome; Nephrosis, nerve deafness, and hypoparathyroidism; See all synonyms [MedGen]
Identifiers:: MedGen: C1840333; Orphanet: 2237; OMIM: 146255
Age of onset:: Childhood
Prevalence:: <1 / 1 000 000 2237

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038381	OMIM	no assertion criteria provided	Pathogenic (Oct 3, 2011)	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

SCV000038381

OMIM

no assertion criteria provided

Pathogenic
(Oct 3, 2011)

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

GATA3 haplo-insufficiency causes human HDR syndrome.

Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K.

Nature. 2000 Jul 27;406(6794):419-22.

PubMed [citation]

PMID:: 10935639

Details of each submission

From OMIM, SCV000038381.1

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

Description

In a mother and her son with HDR syndrome (146255), Van Esch et al. (2000) identified a nonsense mutation at nucleotide 828 of the GATA3 gene, a C-to-T transition resulting in an arginine-to-ter substitution at residue 277 (R277X). This mutation was predicted to result in a truncated protein lacking both zinc fingers and thereby leading to GATA3 haploinsufficiency.

#	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: Sep 14, 2015

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