U.S. flag

An official website of the United States government

NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met) AND Hypoparathyroidism, deafness, renal disease syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 23, 2020
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:
RCV001251020.1

Allele description [Variation Report for NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met)]

NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met)

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.1262C>T (p.Thr421Met)
HGVS:
  • NC_000010.11:g.8073950C>T
  • NG_015859.1:g.24247C>T
  • NM_001002295.2:c.1262C>TMANE SELECT
  • NM_002051.3:c.1259C>T
  • NP_001002295.1:p.Thr421Met
  • NP_002042.1:p.Thr420Met
  • NC_000010.10:g.8115913C>T
  • NM_001002295.1:c.1262C>T
Protein change:
T420M
Links:
dbSNP: rs374919553
NCBI 1000 Genomes Browser:
rs374919553
Molecular consequence:
  • NM_001002295.2:c.1262C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002051.3:c.1259C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Uncertain function

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001424536Molecular Medicine Center, Medical University of Sofia
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 23, 2020) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Bulgarianinheritedyes2not providednot providednot providednot providedresearch

Details of each submission

From Molecular Medicine Center, Medical University of Sofia, SCV001424536.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Bulgarian1not providednot providedresearchnot provided
2Bulgarian1not providednot providedresearchnot provided
3Bulgariannot providednot providednot providedresearchnot provided

Description

Mutation identified in an individual with CKD, renal hypoplasia and hypoparathyroidism. The allele segregates with the disease in the family.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided
2inheritedyesnot providednot providednot provided1not providednot providednot provided
3inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023