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NM_001002295.2(GATA3):c.605G>A (p.Arg202His) AND Hypoparathyroidism, deafness, renal disease syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 21, 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:
RCV001254605.1

Allele description [Variation Report for NM_001002295.2(GATA3):c.605G>A (p.Arg202His)]

NM_001002295.2(GATA3):c.605G>A (p.Arg202His)

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.605G>A (p.Arg202His)
HGVS:
  • NC_000010.11:g.8058668G>A
  • NG_015859.1:g.8965G>A
  • NM_001002295.2:c.605G>AMANE SELECT
  • NM_002051.3:c.605G>A
  • NP_001002295.1:p.Arg202His
  • NP_002042.1:p.Arg202His
  • NC_000010.10:g.8100631G>A
  • NM_001002295.1:c.605G>A
Protein change:
R202H
Links:
dbSNP: rs767671768
NCBI 1000 Genomes Browser:
rs767671768
Molecular consequence:
  • NM_001002295.2:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002051.3:c.605G>A - 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
SCV001430616Johns Hopkins Genomics, Johns Hopkins University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 21, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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 Johns Hopkins Genomics, Johns Hopkins University, SCV001430616.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This GATA3 variant (rs767671768) is rare (<0.1%) in a large population dataset (gnomAD: 6/250082 total alleles; 0.002%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. Of three bioinformatics tools queried, two predict that the substitution would be tolerated, while one predicts that it would be damaging. The arginine residue at this position is highly evolutionarily conserved across most species assessed. Due to insufficient evidence, we consider the clinical significance of c.605G>A to be uncertain at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024