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NM_003722.5(TP63):c.1037C>G (p.Ala346Gly)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 24, 2015)
Last evaluated:
Feb 11, 2014
Accession:
VCV000208418.1
Variation ID:
208418
Description:
single nucleotide variant
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NM_003722.5(TP63):c.1037C>G (p.Ala346Gly)

Allele ID
204641
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q28
Genomic location
3: 189868624 (GRCh38) GRCh38 UCSC
3: 189586413 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.189586413C>G
NC_000003.12:g.189868624C>G
NM_001114978.2:c.1037C>G NP_001108450.1:p.Ala346Gly missense
... more HGVS
Protein change
A346G
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA204448
dbSNP: rs797044484
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Feb 11, 2014 RCV000190455.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TP63 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
195 245

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 11, 2014)
criteria provided, single submitter
Method: research
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
(Autosomal dominant inheritance)
Allele origin: paternal, maternal
Laboratory of Human Genetics,Universidade de São Paulo
Accession: SCV000189629.1
Submitted: (Aug 24, 2015)
Comment:
the two affected individuals represent an affected mother and son; an unaffected daughter was also tested and did not have the variant
Evidence details
Publications
PubMed (2)
Comment:
The proband presents with EEC syndrome. Since the proband’s son does not have cleft lip/palate, his phenotype is similar to that of ADULT syndrome, which ... (more)

Citations for this variant

Title Author Journal Year Link
A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. Alves LU Genetics and molecular biology 2015 PMID: 25983622
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. Clements SE The British journal of dermatology 2010 PMID: 19903181

Record last updated Oct 27, 2019