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NM_005257.6(GATA6):c.1099G>A (p.Gly367Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 1, 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:
RCV004721207.1

Allele description [Variation Report for NM_005257.6(GATA6):c.1099G>A (p.Gly367Arg)]

NM_005257.6(GATA6):c.1099G>A (p.Gly367Arg)

Gene:
GATA6:GATA binding protein 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_005257.6(GATA6):c.1099G>A (p.Gly367Arg)
HGVS:
  • NC_000018.10:g.22172243G>A
  • NG_032677.2:g.7807G>A
  • NG_138494.1:g.499G>A
  • NM_005257.4:c.1099G>A
  • NM_005257.6:c.1099G>AMANE SELECT
  • NP_005248.2:p.Gly367Arg
  • NC_000018.9:g.19752204G>A
Protein change:
G367R
Molecular consequence:
  • NM_005257.6:c.1099G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005328197GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 1, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV005328197.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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

Last Updated: Oct 8, 2024