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NM_003722.5(TP63):c.739C>T (p.His247Tyr) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 26, 2019
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:
RCV000851194.1

Allele description [Variation Report for NM_003722.5(TP63):c.739C>T (p.His247Tyr)]

NM_003722.5(TP63):c.739C>T (p.His247Tyr)

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.739C>T (p.His247Tyr)
HGVS:
  • NC_000003.12:g.189864391C>T
  • NG_007550.3:g.272646C>T
  • NM_001114978.2:c.739C>T
  • NM_001114979.2:c.739C>T
  • NM_001114980.2:c.457C>T
  • NM_001114981.2:c.457C>T
  • NM_001114982.2:c.457C>T
  • NM_001329144.2:c.739C>T
  • NM_001329145.2:c.457C>T
  • NM_001329146.2:c.202C>T
  • NM_001329148.2:c.739C>T
  • NM_001329149.2:c.457C>T
  • NM_001329150.2:c.202C>T
  • NM_001329964.2:c.733C>T
  • NM_003722.5:c.739C>TMANE SELECT
  • NP_001108450.1:p.His247Tyr
  • NP_001108451.1:p.His247Tyr
  • NP_001108452.1:p.His153Tyr
  • NP_001108453.1:p.His153Tyr
  • NP_001108454.1:p.His153Tyr
  • NP_001316073.1:p.His247Tyr
  • NP_001316074.1:p.His153Tyr
  • NP_001316075.1:p.His68Tyr
  • NP_001316077.1:p.His247Tyr
  • NP_001316078.1:p.His153Tyr
  • NP_001316079.1:p.His68Tyr
  • NP_001316893.1:p.His245Tyr
  • NP_003713.3:p.His247Tyr
  • LRG_428t1:c.739C>T
  • LRG_428:g.272646C>T
  • LRG_428p1:p.His247Tyr
  • NC_000003.11:g.189582180C>T
  • NM_003722.4:c.739C>T
Protein change:
H153Y
Links:
dbSNP: rs1553856553
NCBI 1000 Genomes Browser:
rs1553856553
Molecular consequence:
  • NM_001114978.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114979.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114980.2:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114981.2:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114982.2:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329144.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329145.2:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329146.2:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329148.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329149.2:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329150.2:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329964.2:c.733C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003722.5:c.739C>T - 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
SCV000993444HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 26, 2019) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV000993444.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes: PS4M, PM2, PP3, PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024