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NM_001002295.2(GATA3):c.1256C>T (p.Thr419Met) AND Hypoparathyroidism, deafness, renal disease syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 31, 2021
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:
RCV002294548.1

Allele description

NM_001002295.2(GATA3):c.1256C>T (p.Thr419Met)

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.1256C>T (p.Thr419Met)
HGVS:
  • NC_000010.11:g.8073944C>T
  • NG_015859.2:g.33613C>T
  • NM_001002295.2:c.1256C>TMANE SELECT
  • NM_002051.3:c.1253C>T
  • NP_001002295.1:p.Thr419Met
  • NP_002042.1:p.Thr418Met
  • NC_000010.10:g.8115907C>T
  • NC_000010.10:g.8115907C>T
  • NG_015859.1:g.24241C>T
Protein change:
T418M
Molecular consequence:
  • NM_001002295.2:c.1256C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002051.3:c.1253C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002587020UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES_2
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 31, 2021) 		paternalresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknown1not providednot provided1not providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES_2, SCV002587020.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024