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NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 23, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000182192.9

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu)]

NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu)

Genes:
KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu)
Other names:
p.D488E:GAC>GAA
HGVS:
  • NC_000011.10:g.2662031C>A
  • NG_008935.1:g.222041C>A
  • NG_016178.2:g.42968G>T
  • NM_000218.3:c.1464C>AMANE SELECT
  • NM_001406836.1:c.1368C>A
  • NM_001406837.1:c.1194C>A
  • NM_001406838.1:c.924C>A
  • NM_181798.2:c.1083C>A
  • NP_000209.2:p.Asp488Glu
  • NP_000209.2:p.Asp488Glu
  • NP_001393765.1:p.Asp456Glu
  • NP_001393766.1:p.Asp398Glu
  • NP_001393767.1:p.Asp308Glu
  • NP_861463.1:p.Asp361Glu
  • NP_861463.1:p.Asp361Glu
  • LRG_1052t1:n.37968G>T
  • LRG_287t1:c.1464C>A
  • LRG_287t2:c.1083C>A
  • LRG_1052:g.42968G>T
  • LRG_287:g.222041C>A
  • LRG_287p1:p.Asp488Glu
  • LRG_287p2:p.Asp361Glu
  • NC_000011.9:g.2683261C>A
  • NM_000218.2:c.1464C>A
  • NM_181798.1:c.1083C>A
  • NR_002728.3:n.37968G>T
  • NR_002728.4:n.37964G>T
  • NR_040711.2:n.1357C>A
Protein change:
D308E
Links:
dbSNP: rs778041701
NCBI 1000 Genomes Browser:
rs778041701
Molecular consequence:
  • NM_000218.3:c.1464C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.1368C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.1194C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406838.1:c.924C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.1083C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234495GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 23, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000234495.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Asp488Glu (GAC>GAA): c.1464 C>A in exon 11 of the KCNQ1 gene (NM_000218.2). A variant of unknown significance has been identified in the KCNQ1 gene. The D488E variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D488E variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D488E variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense mutations in nearby residues have not been reported in association with arrhythmia, indicating this region of the protein may tolerate change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in ARRHYTHMIA panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024