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NM_003722.5(TP63):c.1976del (p.Asn659fs) AND Rapp-Hodgkin ectodermal dysplasia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 5, 2018
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:
RCV000006917.4

Allele description [Variation Report for NM_003722.5(TP63):c.1976del (p.Asn659fs)]

NM_003722.5(TP63):c.1976del (p.Asn659fs)

Gene:
TP63:tumor protein p63 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q28
Genomic location:
Preferred name:
NM_003722.5(TP63):c.1976del (p.Asn659fs)
HGVS:
  • NC_000003.12:g.189894435del
  • NG_007550.3:g.302690del
  • NM_001114978.2:c.*214del
  • NM_001114980.2:c.1694del
  • NM_001114981.2:c.*214del
  • NM_001329144.2:c.*204del
  • NM_001329145.2:c.*204del
  • NM_001329146.2:c.1439del
  • NM_001329148.2:c.1964del
  • NM_001329149.2:c.*204del
  • NM_001329150.2:c.*204del
  • NM_001329964.2:c.1970del
  • NM_003722.5:c.1976delMANE SELECT
  • NP_001108452.1:p.Asn565fs
  • NP_001316075.1:p.Asn480fs
  • NP_001316077.1:p.Asn655fs
  • NP_001316893.1:p.Asn657fs
  • NP_003713.3:p.Asn659fs
  • LRG_428t1:c.1976del
  • LRG_428:g.302690del
  • LRG_428p1:p.Asn659fs
  • NC_000003.11:g.189612224del
Note:
NCBI staff provided an HGVS expression for allelic variant 603273.0017 from the sequence reported in Figure 3 of the paper by Dianzani et al., 2003 (PubMed 14684701).
Protein change:
N480fs
Links:
OMIM: 603273.0017; dbSNP: rs2108874645
NCBI 1000 Genomes Browser:
rs2108874645
Molecular consequence:
  • NM_001114978.2:c.*214del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001114981.2:c.*214del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001329144.2:c.*204del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001329145.2:c.*204del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001329149.2:c.*204del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001329150.2:c.*204del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001114980.2:c.1694del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329146.2:c.1439del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329148.2:c.1964del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329964.2:c.1970del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003722.5:c.1976del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Rapp-Hodgkin ectodermal dysplasia syndrome (RHS)
Synonyms:
Rapp-Hodgkin syndrome; Ectodermal dysplasia, anhidrotic, with cleft lip/palate
Identifiers:
MONDO: MONDO:0007508; MedGen: C1785148; OMIM: 129400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027113OMIM
no assertion criteria provided
Pathogenic
(Jan 5, 2018) 		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

Isoforms of DeltaNp63 and the migration of ocular limbal cells in human corneal regeneration.

Di Iorio E, Barbaro V, Ruzza A, Ponzin D, Pellegrini G, De Luca M.

Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9523-8. Epub 2005 Jun 27.

PubMed [citation]
PMID:
15983386
PMCID:
PMC1172259

Details of each submission

From OMIM, SCV000027113.2

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

Description

In 2 sibs and their mother who had been diagnosed with Rapp-Hodgkin syndrome (RHS; 129400), Dianzani et al. (2003) identified a 1-bp deletion (1859delA) in exon 14 of the TP63 gene, causing a frameshift at codon 620 affecting the alpha tail. The mutation was not found in an unaffected sib. The mother's clinical history revealed that she had a slight ankyloblepharon on the right eye at birth which was surgically treated; Dianzani et al. (2003) suggested that ankyloblepharon-ectodermal defects-clefting syndrome (AEC; 106260) and RHS are the same clinical entity.

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

Last Updated: Dec 24, 2023