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NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jul 18, 2022
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:
RCV000006908.5

Allele description [Variation Report for NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)]

NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)

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.1028G>A (p.Arg343Gln)
Other names:
R304Q
HGVS:
  • NC_000003.12:g.189868615G>A
  • NG_007550.3:g.276870G>A
  • NM_001114978.2:c.1028G>A
  • NM_001114979.2:c.1028G>A
  • NM_001114980.2:c.746G>A
  • NM_001114981.2:c.746G>A
  • NM_001114982.2:c.746G>A
  • NM_001329144.2:c.1028G>A
  • NM_001329145.2:c.746G>A
  • NM_001329146.2:c.491G>A
  • NM_001329148.2:c.1028G>A
  • NM_001329149.2:c.746G>A
  • NM_001329150.2:c.491G>A
  • NM_001329964.2:c.1022G>A
  • NM_003722.5:c.1028G>AMANE SELECT
  • NP_001108450.1:p.Arg343Gln
  • NP_001108451.1:p.Arg343Gln
  • NP_001108452.1:p.Arg249Gln
  • NP_001108453.1:p.Arg249Gln
  • NP_001108454.1:p.Arg249Gln
  • NP_001316073.1:p.Arg343Gln
  • NP_001316074.1:p.Arg249Gln
  • NP_001316075.1:p.Arg164Gln
  • NP_001316077.1:p.Arg343Gln
  • NP_001316078.1:p.Arg249Gln
  • NP_001316079.1:p.Arg164Gln
  • NP_001316893.1:p.Arg341Gln
  • NP_003713.3:p.Arg343Gln
  • LRG_428t1:c.1028G>A
  • LRG_428:g.276870G>A
  • LRG_428p1:p.Arg343Gln
  • NC_000003.11:g.189586404G>A
  • NM_003722.4:c.1028G>A
  • Q9H3D4:p.Arg343Gln
Protein change:
R164Q; ARG304GLN
Links:
UniProtKB: Q9H3D4#VAR_020876; OMIM: 603273.0008; dbSNP: rs121908841
NCBI 1000 Genomes Browser:
rs121908841
Molecular consequence:
  • NM_001114978.2:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114979.2:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114980.2:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114981.2:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114982.2:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329144.2:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329145.2:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329146.2:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329148.2:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329149.2:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329150.2:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329964.2:c.1022G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003722.5:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV000027104OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2000) 		germlineliterature only

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

SCV002581662MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 18, 2022) 		germlineclinical testing

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
not providedgermlineyes2not providednot providednot providednot providedclinical testing

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000027104.2

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

Description

In a study of 4 European families with ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC3; 604292), Ianakiev et al. (2000) identified heterozygosity for 2 missense mutations in the TP63 gene: a G-to-A transition at nucleotide 1065 in exon 8 that predicts an arg304-to-gln (R304Q) substitution, and a G-to-A transition at nucleotide 980 in exon 7 that predicts an arg279-to-his (R279H; 603273.0007) substitution.

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

From MGZ Medical Genetics Center, SCV002581662.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 29, 2024