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NM_004519.4(KCNQ3):c.2443G>T (p.Asp815Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 29, 2018
Accession:
VCV000205994.3
Variation ID:
205994
Description:
single nucleotide variant
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NM_004519.4(KCNQ3):c.2443G>T (p.Asp815Tyr)

Allele ID
202145
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.22
Genomic location
8: 132129438 (GRCh38) GRCh38 UCSC
8: 133141685 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.133141685C>A
NC_000008.11:g.132129438C>A
NM_001204824.1:c.2083G>T NP_001191753.1:p.Asp695Tyr missense
... more HGVS
Protein change
D815Y
Other names
p.D815Y:GAT>TAT
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
1000 Genomes Project 0.00020
Links
dbSNP: rs530506549
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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 Aug 31, 2012 RCV000188000.1
Uncertain significance 1 criteria provided, single submitter Nov 29, 2018 RCV000647887.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNQ3 - - GRCh38
GRCh37
460 511

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 31, 2012)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000241603.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Asp815Tyr (GAT>TAT):c.2443 G>T in exon 15 of the KCNQ3 gene (NM_004519.2) The Asp815Tyr missense change has not been published as a mutation, nor has it ... (more)
Uncertain significance
(Nov 29, 2018)
criteria provided, single submitter
Method: clinical testing
Benign familial neonatal seizures
Allele origin: germline
Invitae
Accession: SCV000769691.2
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces aspartic acid with tyrosine at codon 815 of the KCNQ3 protein (p.Asp815Tyr). The aspartic acid residue is moderately conserved and there ... (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 Oct 11, 2019