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NM_003722.5(TP63):c.679G>A (p.Ala227Thr) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 22, 2023
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:
RCV003314740.2

Allele description [Variation Report for NM_003722.5(TP63):c.679G>A (p.Ala227Thr)]

NM_003722.5(TP63):c.679G>A (p.Ala227Thr)

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.679G>A (p.Ala227Thr)
HGVS:
  • NC_000003.12:g.189864331G>A
  • NG_007550.3:g.272586G>A
  • NM_001114978.2:c.679G>A
  • NM_001114979.2:c.679G>A
  • NM_001114980.2:c.397G>A
  • NM_001114981.2:c.397G>A
  • NM_001114982.2:c.397G>A
  • NM_001329144.2:c.679G>A
  • NM_001329145.2:c.397G>A
  • NM_001329146.2:c.142G>A
  • NM_001329148.2:c.679G>A
  • NM_001329149.2:c.397G>A
  • NM_001329150.2:c.142G>A
  • NM_001329964.2:c.673G>A
  • NM_003722.5:c.679G>AMANE SELECT
  • NP_001108450.1:p.Ala227Thr
  • NP_001108451.1:p.Ala227Thr
  • NP_001108452.1:p.Ala133Thr
  • NP_001108453.1:p.Ala133Thr
  • NP_001108454.1:p.Ala133Thr
  • NP_001316073.1:p.Ala227Thr
  • NP_001316074.1:p.Ala133Thr
  • NP_001316075.1:p.Ala48Thr
  • NP_001316077.1:p.Ala227Thr
  • NP_001316078.1:p.Ala133Thr
  • NP_001316079.1:p.Ala48Thr
  • NP_001316893.1:p.Ala225Thr
  • NP_003713.3:p.Ala227Thr
  • LRG_428t1:c.679G>A
  • LRG_428:g.272586G>A
  • LRG_428p1:p.Ala227Thr
  • NC_000003.11:g.189582120G>A
Protein change:
A133T
Molecular consequence:
  • NM_001114978.2:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114979.2:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114980.2:c.397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114981.2:c.397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114982.2:c.397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329144.2:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329145.2:c.397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329146.2:c.142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329148.2:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329149.2:c.397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329150.2:c.142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329964.2:c.673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003722.5:c.679G>A - 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
SCV004014774Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Likely pathogenic
(Mar 22, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004014774.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024