NM_001002295.2(GATA3):c.381_388del (p.Gly128fs) AND Hypoparathyroidism, deafness, renal disease syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002250007.1

Allele description [Variation Report for NM_001002295.2(GATA3):c.381_388del (p.Gly128fs)]

NM_001002295.2(GATA3):c.381_388del (p.Gly128fs)

Gene:

GATA3:GATA binding protein 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10p14

Genomic location:

Preferred name:

NM_001002295.2(GATA3):c.381_388del (p.Gly128fs)

HGVS:

NC_000010.11:g.8058444_8058451del
NG_015859.1:g.8741_8748del
NM_001002295.2:c.381_388delMANE SELECT
NM_002051.3:c.381_388del
NP_001002295.1:p.Gly128fs
NP_002042.1:p.Gly128fs
NC_000010.10:g.8100407_8100414del
NC_000010.11:g.8058440_8058447delCCCCGGGG

Protein change:

G128fs

Links:

dbSNP: rs2131488863

NCBI 1000 Genomes Browser:

rs2131488863

Molecular consequence:

NM_001002295.2:c.381_388del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002051.3:c.381_388del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hypoparathyroidism, deafness, renal disease syndrome (HDRS)
Synonyms:: Barakat syndrome; Hypoparathyroidism, sensorineural deafness, and renal dysplasia; HDR syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007797; MedGen: C1840333; Orphanet: 2237; OMIM: 146255

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002516445	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002516445

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

germline

clinical testing

Citation Link

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 Mendelics, SCV002516445.1

#	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: Dec 24, 2023

ClinVar

Relating variation to medicine