NM_003722.5(TP63):c.1685T>C (p.Leu562Pro) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 29, 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:: RCV000850386.1

Allele description [Variation Report for NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)]

NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)

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.1685T>C (p.Leu562Pro)

HGVS:

NC_000003.12:g.189890821T>C
NG_007550.3:g.299076T>C
NM_001114978.2:c.1652+1337T>C
NM_001114980.2:c.1403T>C
NM_001114981.2:c.1370+1337T>C
NM_001329144.2:c.1508-3385T>C
NM_001329145.2:c.1226-3385T>C
NM_001329146.2:c.1148T>C
NM_001329148.2:c.1673T>C
NM_001329149.2:c.1214-3385T>C
NM_001329150.2:c.959-3385T>C
NM_001329964.2:c.1679T>C
NM_003722.5:c.1685T>CMANE SELECT
NP_001108452.1:p.Leu468Pro
NP_001316075.1:p.Leu383Pro
NP_001316077.1:p.Leu558Pro
NP_001316893.1:p.Leu560Pro
NP_003713.3:p.Leu562Pro
LRG_428t1:c.1685T>C
LRG_428:g.299076T>C
LRG_428p1:p.Leu562Pro
NC_000003.11:g.189608610T>C
NM_003722.4:c.1685T>C

Protein change:

L383P

Links:

dbSNP: rs774221257

NCBI 1000 Genomes Browser:

rs774221257

Molecular consequence:

NM_001114978.2:c.1652+1337T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001114981.2:c.1370+1337T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001329144.2:c.1508-3385T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001329145.2:c.1226-3385T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001329149.2:c.1214-3385T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001329150.2:c.959-3385T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001114980.2:c.1403T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001329146.2:c.1148T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001329148.2:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001329964.2:c.1679T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003722.5:c.1685T>C - 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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rho GDP-dissociation inhibitor 2 [Homo sapiens]
rho GDP-dissociation inhibitor 2 [Homo sapiens]
gi|56676393|ref|NP_001166.3|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992573	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 29, 2019)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000992573

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 29, 2019)

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	research

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, SCV000992573.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

Description

ACMG codes: PS2, PM1, PM2, PP3

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 17, 2022

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