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NM_003722.5(TP63):c.1575C>T (p.Leu525=) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 7, 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:
RCV002507993.1

Allele description [Variation Report for NM_003722.5(TP63):c.1575C>T (p.Leu525=)]

NM_003722.5(TP63):c.1575C>T (p.Leu525=)

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.1575C>T (p.Leu525=)
HGVS:
  • NC_000003.12:g.189889407C>T
  • NG_007550.3:g.297662C>T
  • NM_001114978.2:c.1575C>T
  • NM_001114980.2:c.1293C>T
  • NM_001114981.2:c.1293C>T
  • NM_001329144.2:c.1507+2856C>T
  • NM_001329145.2:c.1225+2856C>T
  • NM_001329146.2:c.1038C>T
  • NM_001329148.2:c.1563C>T
  • NM_001329149.2:c.1213+2856C>T
  • NM_001329150.2:c.958+2856C>T
  • NM_001329964.2:c.1569C>T
  • NM_003722.5:c.1575C>TMANE SELECT
  • NP_001108450.1:p.Leu525=
  • NP_001108452.1:p.Leu431=
  • NP_001108453.1:p.Leu431=
  • NP_001316075.1:p.Leu346=
  • NP_001316077.1:p.Leu521=
  • NP_001316893.1:p.Leu523=
  • NP_003713.3:p.Leu525=
  • LRG_428t1:c.1575C>T
  • LRG_428:g.297662C>T
  • LRG_428p1:p.Leu525=
  • NC_000003.11:g.189607196C>T
Links:
dbSNP: rs147389337
NCBI 1000 Genomes Browser:
rs147389337
Molecular consequence:
  • NM_001329144.2:c.1507+2856C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001329145.2:c.1225+2856C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001329149.2:c.1213+2856C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001329150.2:c.958+2856C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114978.2:c.1575C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001114980.2:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001114981.2:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001329146.2:c.1038C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001329148.2:c.1563C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001329964.2:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003722.5:c.1575C>T - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002808522Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Mar 7, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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, SCV002808522.1

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

Last Updated: Sep 29, 2024