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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:
1

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004808561MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)
Likely pathogenic
(Apr 20, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004808561.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024