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NM_145861.3(EDARADD):c.417G>A (p.Trp139Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Aug 1, 2016
Accession:
VCV000473077.1
Variation ID:
473077
Description:
single nucleotide variant
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NM_145861.3(EDARADD):c.417G>A (p.Trp139Ter)

Allele ID
447817
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q43
Genomic location
1: 236482418 (GRCh38) GRCh38 UCSC
1: 236645718 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.236645718G>A
NC_000001.11:g.236482418G>A
NM_080738.4:c.387G>A NP_542776.1:p.Trp129Ter nonsense
... more HGVS
Protein change
W139*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs954823206
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 1, 2016 RCV000549383.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EDARADD - - GRCh38
GRCh37
70 119

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 01, 2016)
criteria provided, single submitter
Method: clinical testing
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
Allele origin: germline
Invitae
Accession: SCV000652456.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the last exon of the EDARADD mRNA at codon 139 (p.Trp139*). While this is ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 25, 2019