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NM_003722.5(TP63):c.955C>T (p.Arg319Cys) AND Split hand-foot malformation 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2000
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:
RCV000006905.3

Allele description [Variation Report for NM_003722.5(TP63):c.955C>T (p.Arg319Cys)]

NM_003722.5(TP63):c.955C>T (p.Arg319Cys)

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.955C>T (p.Arg319Cys)
Other names:
R280C
HGVS:
  • NC_000003.12:g.189867905C>T
  • NG_007550.3:g.276160C>T
  • NM_001114978.2:c.955C>T
  • NM_001114979.2:c.955C>T
  • NM_001114980.2:c.673C>T
  • NM_001114981.2:c.673C>T
  • NM_001114982.2:c.673C>T
  • NM_001329144.2:c.955C>T
  • NM_001329145.2:c.673C>T
  • NM_001329146.2:c.418C>T
  • NM_001329148.2:c.955C>T
  • NM_001329149.2:c.673C>T
  • NM_001329150.2:c.418C>T
  • NM_001329964.2:c.949C>T
  • NM_003722.5:c.955C>TMANE SELECT
  • NP_001108450.1:p.Arg319Cys
  • NP_001108451.1:p.Arg319Cys
  • NP_001108452.1:p.Arg225Cys
  • NP_001108453.1:p.Arg225Cys
  • NP_001108454.1:p.Arg225Cys
  • NP_001316073.1:p.Arg319Cys
  • NP_001316074.1:p.Arg225Cys
  • NP_001316075.1:p.Arg140Cys
  • NP_001316077.1:p.Arg319Cys
  • NP_001316078.1:p.Arg225Cys
  • NP_001316079.1:p.Arg140Cys
  • NP_001316893.1:p.Arg317Cys
  • NP_003713.3:p.Arg319Cys
  • LRG_428t1:c.955C>T
  • LRG_428:g.276160C>T
  • LRG_428p1:p.Arg319Cys
  • NC_000003.11:g.189585694C>T
  • NM_003722.4:c.955C>T
  • Q9H3D4:p.Arg319Cys
Protein change:
R140C; ARG280CYS
Links:
UniProtKB: Q9H3D4#VAR_020874; OMIM: 603273.0006; dbSNP: rs121908839
NCBI 1000 Genomes Browser:
rs121908839
Molecular consequence:
  • NM_001114978.2:c.955C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114979.2:c.955C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114980.2:c.673C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114981.2:c.673C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114982.2:c.673C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329144.2:c.955C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329145.2:c.673C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329146.2:c.418C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329148.2:c.955C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329149.2:c.673C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329150.2:c.418C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329964.2:c.949C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003722.5:c.955C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Split hand-foot malformation 4
Synonyms:
Split-hand/foot malformation 4; Split-Hand/Foot Malformation Type 4 (SHFM4 syndrome)
Identifiers:
MONDO: MONDO:0011535; MedGen: C1854442; Orphanet: 2440; OMIM: 605289

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027101OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2000) 		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

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P.

Am J Hum Genet. 2000 Jul;67(1):59-66. Epub 2000 Jun 5.

PubMed [citation]
PMID:
10839977
PMCID:
PMC1287102

Details of each submission

From OMIM, SCV000027101.2

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

Description

In a family of mixed ancestry from Cape Province, South Africa, with split-hand/foot malformation (SHFM4; 605289), Ianakiev et al. (2000) identified a 982T-C transition in exon 7 of the TP63 gene, predicted to cause an arg280-to-cys (R280C) amino acid substitution. The phenotype in this family, designated A, ranged from severe 'lobster claw' malformations of the feet in 1 individual, to minor 3/4 syndactyly of the left foot appearing as the only manifestation in another individual. The daughter of the latter individual had distal duplications of her thumbs bilaterally with absence of the second and third phalanges of the right hand and an absent second phalanx with 3/4 syndactyly of the left hand. No members of the family had significant abnormality of the face, palate, skin, teeth, hair, or nails. No abnormalities of the mammary glands or nipples were noted.

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

Last Updated: Sep 29, 2024