U.S. flag

An official website of the United States government

NM_003722.5(TP63):c.1691dup (p.Tyr564Ter) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 15, 1999
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:
RCV000006903.3

Allele description [Variation Report for NM_003722.5(TP63):c.1691dup (p.Tyr564Ter)]

NM_003722.5(TP63):c.1691dup (p.Tyr564Ter)

Gene:
TP63:tumor protein p63 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q28
Genomic location:
Preferred name:
NM_003722.5(TP63):c.1691dup (p.Tyr564Ter)
HGVS:
  • NC_000003.12:g.189890827dup
  • NG_007550.3:g.299082dup
  • NM_001114978.2:c.1652+1343dup
  • NM_001114980.2:c.1409dup
  • NM_001114981.2:c.1370+1343dup
  • NM_001329144.2:c.1508-3379dup
  • NM_001329145.2:c.1226-3379dup
  • NM_001329146.2:c.1154dup
  • NM_001329148.2:c.1679dup
  • NM_001329149.2:c.1214-3379dup
  • NM_001329150.2:c.959-3379dup
  • NM_001329964.2:c.1685dup
  • NM_003722.5:c.1691dupMANE SELECT
  • NP_001108452.1:p.Tyr470Ter
  • NP_001316075.1:p.Tyr385Ter
  • NP_001316077.1:p.Tyr560Ter
  • NP_001316893.1:p.Tyr562Ter
  • NP_003713.3:p.Tyr564Ter
  • LRG_428t1:c.1691dup
  • LRG_428:g.299082dup
  • LRG_428p1:p.Tyr564Ter
  • NC_000003.11:g.189608616dup
Note:
NCBI staff provided an HGVS expression for allelic variant 603273.0004 from the sequence reported in Figure 3 of the paper by Celli et al., 1999 (PubMed 10535733).
Protein change:
Y385*
Links:
OMIM: 603273.0004; dbSNP: rs2108864810
NCBI 1000 Genomes Browser:
rs2108864810
Molecular consequence:
  • NM_001114978.2:c.1652+1343dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114981.2:c.1370+1343dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001329144.2:c.1508-3379dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001329145.2:c.1226-3379dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001329149.2:c.1214-3379dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001329150.2:c.959-3379dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114980.2:c.1409dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329146.2:c.1154dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329148.2:c.1679dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329964.2:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003722.5:c.1691dup - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027099OMIM
no assertion criteria provided
Pathogenic
(Oct 15, 1999) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H.

Cell. 1999 Oct 15;99(2):143-53.

PubMed [citation]
PMID:
10535733

Details of each submission

From OMIM, SCV000027099.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC3; 604292), Celli et al. (1999) identified a 1-bp insertion (A) at nucleotide 1572 in exon 13 of the TP63 gene, resulting in a frameshift at codon 525 (tyr) and a premature stop codon in the same exon. The mutation was de novo.

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

Last Updated: Dec 24, 2023