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NM_002241.5(KCNJ10):c.250G>A (p.Val84Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 16, 2018
Accession:
VCV000205819.3
Variation ID:
205819
Description:
single nucleotide variant
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NM_002241.5(KCNJ10):c.250G>A (p.Val84Met)

Allele ID
201058
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.2
Genomic location
1: 160042283 (GRCh38) GRCh38 UCSC
1: 160012073 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.160012073C>T
NC_000001.11:g.160042283C>T
NM_002241.5:c.250G>A NP_002232.2:p.Val84Met missense
NG_016411.1:g.32889G>A
Protein change
V84M
Other names
p.V84M:GTG>ATG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00011
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA315265
dbSNP: rs140646329
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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 Jul 11, 2018 RCV000187807.3
Uncertain significance 1 criteria provided, single submitter Aug 16, 2018 RCV000807727.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNJ10 - - GRCh38
GRCh37
154 175

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 11, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000241405.13
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant of uncertain significance has been identified in the KCNJ10 gene. The V84M variant was previously identified as a heterozygous change in an individual ... (more)
Uncertain significance
(Aug 16, 2018)
criteria provided, single submitter
Method: clinical testing
SeSAME syndrome
Allele origin: germline
Invitae
Accession: SCV000947796.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces valine with methionine at codon 84 of the KCNJ10 protein (p.Val84Met). The valine residue is highly conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy. Sicca F Scientific reports 2016 PMID: 27677466

Record last updated Jan 11, 2020