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NM_012479.3(YWHAG):c.148A>C (p.Lys50Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 18, 2018)
Last evaluated:
Apr 16, 2018
Accession:
VCV000549487.1
Variation ID:
549487
Description:
single nucleotide variant
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NM_012479.3(YWHAG):c.148A>C (p.Lys50Gln)

Allele ID
539973
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q11.23
Genomic location
7: 76330173 (GRCh38) GRCh38 UCSC
7: 75959490 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.14:g.76330173T>G
NC_000007.13:g.75959490T>G
NM_012479.3:c.148A>C NP_036611.2:p.Lys50Gln missense
Protein change
K50Q
Other names
NM_012479.3:c.148A>C(p.Lys50Gln)
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554616652
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 16, 2018 RCV000664053.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
Method: curation
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56
Allele origin: germline
SIB Swiss Institute of Bioinformatics
Accession: SCV000787475.1
Submitted: (Apr 18, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This variant is interpreted as a Uncertain Significance, for Autism, Multifactorial. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely ... (more)

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

Record last updated Jun 17, 2019