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NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 26, 2021
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:
RCV002386338.9

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn)]

NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn)

Gene:
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.1375G>A (p.Asp459Asn)
HGVS:
  • NC_000011.10:g.2588836G>A
  • NG_008935.1:g.148846G>A
  • NM_000218.3:c.1375G>AMANE SELECT
  • NM_001406836.1:c.1279G>A
  • NM_001406837.1:c.1105G>A
  • NM_001406838.1:c.835G>A
  • NM_181798.2:c.994G>A
  • NP_000209.2:p.Asp459Asn
  • NP_000209.2:p.Asp459Asn
  • NP_001393765.1:p.Asp427Asn
  • NP_001393766.1:p.Asp369Asn
  • NP_001393767.1:p.Asp279Asn
  • NP_861463.1:p.Asp332Asn
  • NP_861463.1:p.Asp332Asn
  • LRG_287t1:c.1375G>A
  • LRG_287t2:c.994G>A
  • LRG_287:g.148846G>A
  • LRG_287p1:p.Asp459Asn
  • LRG_287p2:p.Asp332Asn
  • NC_000011.9:g.2610066G>A
  • NM_000218.2:c.1375G>A
  • NM_181798.1:c.994G>A
  • NR_040711.2:n.1268G>A
Protein change:
D279N
Links:
dbSNP: rs747704276
NCBI 1000 Genomes Browser:
rs747704276
Molecular consequence:
  • NM_000218.3:c.1375G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.1279G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406838.1:c.835G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002702531Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 26, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002702531.2

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

Description

The p.D459N variant (also known as c.1375G>A), located in coding exon 10 of the KCNQ1 gene, results from a G to A substitution at nucleotide position 1375. The aspartic acid at codon 459 is replaced by asparagine, an amino acid with highly similar properties, and is located in the cytoplasmic C-terminal region of the protein. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Jul 15, 2024