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NM_003722.5(TP63):c.740A>G (p.His247Arg) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2015
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:
RCV000206266.3

Allele description [Variation Report for NM_003722.5(TP63):c.740A>G (p.His247Arg)]

NM_003722.5(TP63):c.740A>G (p.His247Arg)

Gene:
TP63:tumor protein p63 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q28
Genomic location:
Preferred name:
NM_003722.5(TP63):c.740A>G (p.His247Arg)
HGVS:
  • NC_000003.12:g.189864392A>G
  • NG_007550.3:g.272647A>G
  • NM_001114978.2:c.740A>G
  • NM_001114979.2:c.740A>G
  • NM_001114980.2:c.458A>G
  • NM_001114981.2:c.458A>G
  • NM_001114982.2:c.458A>G
  • NM_001329144.2:c.740A>G
  • NM_001329145.2:c.458A>G
  • NM_001329146.2:c.203A>G
  • NM_001329148.2:c.740A>G
  • NM_001329149.2:c.458A>G
  • NM_001329150.2:c.203A>G
  • NM_001329964.2:c.734A>G
  • NM_003722.5:c.740A>GMANE SELECT
  • NP_001108450.1:p.His247Arg
  • NP_001108451.1:p.His247Arg
  • NP_001108452.1:p.His153Arg
  • NP_001108453.1:p.His153Arg
  • NP_001108454.1:p.His153Arg
  • NP_001316073.1:p.His247Arg
  • NP_001316074.1:p.His153Arg
  • NP_001316075.1:p.His68Arg
  • NP_001316077.1:p.His247Arg
  • NP_001316078.1:p.His153Arg
  • NP_001316079.1:p.His68Arg
  • NP_001316893.1:p.His245Arg
  • NP_003713.3:p.His247Arg
  • LRG_428t1:c.740A>G
  • LRG_428:g.272647A>G
  • LRG_428p1:p.His247Arg
  • NC_000003.11:g.189582181A>G
  • NM_001114978.1:c.740A>G
  • NM_003722.4:c.740A>G
Protein change:
H153R
Links:
dbSNP: rs864621968
NCBI 1000 Genomes Browser:
rs864621968
Molecular consequence:
  • NM_001114978.2:c.740A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114979.2:c.740A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114980.2:c.458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114981.2:c.458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114982.2:c.458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329144.2:c.740A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329145.2:c.458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329146.2:c.203A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329148.2:c.740A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329149.2:c.458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329150.2:c.203A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329964.2:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003722.5:c.740A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Synonyms:
EEC SYNDROME 3; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Type 3 (EEC3); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011428; MedGen: C1858562; Orphanet: 1896; OMIM: 604292

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223904Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Apr 1, 2015) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Polla DL, Cardoso MT, Silva MC, Cardoso IC, Medina CT, Araujo R, Fernandes CC, Reis AM, de Andrade RV, Pereira RW, Pogue R.

PLoS One. 2015;10(9):e0138314. doi: 10.1371/journal.pone.0138314.

PubMed [citation]
PMID:
26380986
PMCID:
PMC4575211

Details of each submission

From Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília, SCV000223904.1

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

Last Updated: Sep 29, 2024