NM_001002295.2(GATA3):c.863G>C (p.Cys288Ser) AND Hypoparathyroidism, deafness, renal disease syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 20, 2023
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:: RCV003991235.2

Allele description [Variation Report for NM_001002295.2(GATA3):c.863G>C (p.Cys288Ser)]

NM_001002295.2(GATA3):c.863G>C (p.Cys288Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10p14

Genomic location:

Preferred name:

NM_001002295.2(GATA3):c.863G>C (p.Cys288Ser)

HGVS:

NC_000010.11:g.8064077G>C
NG_015859.1:g.14374G>C
NG_015859.2:g.23746G>C
NG_118686.1:g.1103G>C
NM_001002295.2:c.863G>CMANE SELECT
NM_002051.3:c.860G>C
NP_001002295.1:p.Cys288Ser
NP_002042.1:p.Cys287Ser
NC_000010.10:g.8106040G>C

Protein change:

C287S

Molecular consequence:

NM_001002295.2:c.863G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002051.3:c.860G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV004808561	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Likely pathogenic (Apr 20, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004808561

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Likely pathogenic
(Apr 20, 2023)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004808561.1

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

Description

ACMG Criteria: PM5,PP3_MOD,PM1_SUP,PM2_SUP,PP2

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

Last Updated: Jun 2, 2024

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