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NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000157241.1

Allele description [Variation Report for NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys)]

NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys)

Gene:
GATA5:GATA binding protein 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys)
Other names:
p.Arg387Cys
HGVS:
  • NC_000020.11:g.62464871G>A
  • NG_046963.1:g.16100C>T
  • NM_080473.5:c.1159C>TMANE SELECT
  • NP_536721.1:p.Arg387Cys
  • NC_000020.10:g.61039927G>A
  • NM_080473.4:c.1159C>T
Protein change:
R387C
Links:
dbSNP: rs145205240
NCBI 1000 Genomes Browser:
rs145205240
Molecular consequence:
  • NM_080473.5:c.1159C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Aortic valve disease 1 (AOVD1)
Identifiers:
MONDO: MONDO:0024523; MedGen: C3887892; OMIM: 109730
Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206968Blueprint Genetics
no assertion criteria provided
Uncertain significance
(Apr 8, 2014) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000206968.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024