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NM_001002295.2(GATA3):c.572C>T (p.Pro191Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 13, 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:
RCV002748030.2

Allele description [Variation Report for NM_001002295.2(GATA3):c.572C>T (p.Pro191Leu)]

NM_001002295.2(GATA3):c.572C>T (p.Pro191Leu)

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.572C>T (p.Pro191Leu)
HGVS:
  • NC_000010.11:g.8058635C>T
  • NG_015859.1:g.8932C>T
  • NG_015859.2:g.18304C>T
  • NM_001002295.2:c.572C>TMANE SELECT
  • NM_002051.3:c.572C>T
  • NP_001002295.1:p.Pro191Leu
  • NP_002042.1:p.Pro191Leu
  • NC_000010.10:g.8100598C>T
  • NM_001002295.1:c.572C>T
Protein change:
P191L
Molecular consequence:
  • NM_001002295.2:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002051.3:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003572710Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 13, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003572710.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.572C>T (p.P191L) alteration is located in exon 3 (coding exon 2) of the GATA3 gene. This alteration results from a C to T substitution at nucleotide position 572, causing the proline (P) at amino acid position 191 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024