NM_003722.5(TP63):c.654A>G (p.Pro218=) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 19, 2021
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:: RCV002494367.1

Allele description [Variation Report for NM_003722.5(TP63):c.654A>G (p.Pro218=)]

NM_003722.5(TP63):c.654A>G (p.Pro218=)

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.654A>G (p.Pro218=)

HGVS:

NC_000003.12:g.189864306A>G
NG_007550.3:g.272561A>G
NM_001114978.2:c.654A>G
NM_001114979.2:c.654A>G
NM_001114980.2:c.372A>G
NM_001114981.2:c.372A>G
NM_001114982.2:c.372A>G
NM_001329144.2:c.654A>G
NM_001329145.2:c.372A>G
NM_001329146.2:c.117A>G
NM_001329148.2:c.654A>G
NM_001329149.2:c.372A>G
NM_001329150.2:c.117A>G
NM_001329964.2:c.648A>G
NM_003722.5:c.654A>GMANE SELECT
NP_001108450.1:p.Pro218=
NP_001108451.1:p.Pro218=
NP_001108452.1:p.Pro124=
NP_001108453.1:p.Pro124=
NP_001108454.1:p.Pro124=
NP_001316073.1:p.Pro218=
NP_001316074.1:p.Pro124=
NP_001316075.1:p.Pro39=
NP_001316077.1:p.Pro218=
NP_001316078.1:p.Pro124=
NP_001316079.1:p.Pro39=
NP_001316893.1:p.Pro216=
NP_003713.3:p.Pro218=
LRG_428t1:c.654A>G
LRG_428:g.272561A>G
LRG_428p1:p.Pro218=
NC_000003.11:g.189582095A>G

Links:

dbSNP: rs764672477

NCBI 1000 Genomes Browser:

rs764672477

Molecular consequence:

NM_001114978.2:c.654A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001114979.2:c.654A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001114980.2:c.372A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001114981.2:c.372A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001114982.2:c.372A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001329144.2:c.654A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001329145.2:c.372A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001329146.2:c.117A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001329148.2:c.654A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001329149.2:c.372A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001329150.2:c.117A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001329964.2:c.648A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003722.5:c.654A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: ADULT syndrome
Synonyms:: Acro-dermato-ungual-lacrimal-tooth syndrome
Identifiers:: MONDO: MONDO:0007072; MedGen: C1863204; Orphanet: 978; OMIM: 103285

Name:: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Synonyms:: Hay-Wells syndrome; AEC syndrome; Hay-Wells syndrome of ectodermal dysplasia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007124; MedGen: C0406709; Orphanet: 1071; OMIM: 106260

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

Name:: Limb-mammary syndrome (LMS)
Synonyms:: Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies
Identifiers:: MONDO: MONDO:0011334; MedGen: C1863753; Orphanet: 69085; OMIM: 603543

Name:: Rapp-Hodgkin syndrome (RHS)
Synonyms:: Rapp-Hodgkin ectodermal dysplasia syndrome; Ectodermal dysplasia, anhidrotic, with cleft lip/palate
Identifiers:: MONDO: MONDO:0007508; MedGen: C1785148; OMIM: 129400

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

Name:: Orofacial cleft 8
Synonyms:: Cleft lip with or without cleft palate, nonsyndromic, 8
Identifiers:: MONDO: MONDO:0029145; MedGen: C1851878; OMIM: 618149

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MULTISPECIES: DUF1206 domain-containing protein [Alteromonas]
MULTISPECIES: DUF1206 domain-containing protein [Alteromonas]
gi|763178929|ref|WP_044058576.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002801649	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Oct 19, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002801649

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Oct 19, 2021)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Fulgent Genetics, Fulgent Genetics, SCV002801649.1

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

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

Last Updated: Sep 29, 2024

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