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NM_012479.3(YWHAG):c.387C>G (p.Asp129Glu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Apr 18, 2018)
Last evaluated:
Apr 16, 2018
Accession:
VCV000438806.1
Variation ID:
438806
Description:
single nucleotide variant
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NM_012479.3(YWHAG):c.387C>G (p.Asp129Glu)

Allele ID
432437
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q11.23
Genomic location
7: 76329934 (GRCh38) GRCh38 UCSC
7: 75959251 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.14:g.76329934G>C
NC_000007.13:g.75959251G>C
NM_012479.3:c.387C>G NP_036611.2:p.Asp129Glu missense
Protein change
D129E
Other names
NM_012479.3:c.387C>G(p.Asp129Glu)
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 605356.0003
dbSNP: rs1554616630
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Apr 16, 2018 RCV000505692.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
YWHAG - - GRCh38
GRCh37
5 36

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 16, 2018)
criteria provided, single submitter
Method: curation
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56
Allele origin: germline
SIB Swiss Institute of Bioinformatics
Accession: SCV000787453.1
Submitted: (Apr 18, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This variant is interpreted as a Likely Pathogenic, for Epileptic encephalopathy, early infantile, 56, Autosomal Dominant inheritance. The following ACMG Tag(s) were applied: PM2 => ... (more)
Pathogenic
(Sep 12, 2013)
no assertion criteria provided
Method: literature only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56
Allele origin: germline
OMIM
Accession: SCV000599983.1
Submitted: (Sep 19, 2017)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. Guella I American journal of human genetics 2017 PMID: 28777935
De novo mutations in epileptic encephalopathies. Epi4K Consortium. Nature 2013 PMID: 23934111

Record last updated Jun 17, 2019