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NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) AND not provided

Germline classification:
Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:
Jun 28, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000182091.25

Allele description [Variation Report for NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)]

NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)

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.604G>A (p.Asp202Asn)
Other names:
p.D202N:GAC>AAC
HGVS:
  • NC_000011.10:g.2570754G>A
  • NG_008935.1:g.130764G>A
  • NM_000218.3:c.604G>AMANE SELECT
  • NM_001406836.1:c.604G>A
  • NM_001406837.1:c.334G>A
  • NM_181798.2:c.223G>A
  • NP_000209.2:p.Asp202Asn
  • NP_000209.2:p.Asp202Asn
  • NP_001393765.1:p.Asp202Asn
  • NP_001393766.1:p.Asp112Asn
  • NP_861463.1:p.Asp75Asn
  • NP_861463.1:p.Asp75Asn
  • LRG_287t1:c.604G>A
  • LRG_287t2:c.223G>A
  • LRG_287:g.130764G>A
  • LRG_287p1:p.Asp202Asn
  • LRG_287p2:p.Asp75Asn
  • NC_000011.9:g.2591984G>A
  • NM_000218.2:c.604G>A
  • NM_181798.1:c.223G>A
  • NR_040711.2:n.497G>A
Protein change:
D112N
Links:
dbSNP: rs199472702
NCBI 1000 Genomes Browser:
rs199472702
Molecular consequence:
  • NM_000218.3:c.604G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.604G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.334G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.223G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000234394GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(Jun 28, 2023)
germlineclinical testing

Citation Link,

SCV002501690AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Dec 30, 2021)
germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

SCV002544487CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Pathogenic
(Jun 1, 2023)
germlineclinical testing

Citation Link,

SCV002577360Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jun 2, 2022)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.

Wang Z, Li H, Moss AJ, Robinson J, Zareba W, Knilans T, Bowles NE, Towbin JA.

Mol Genet Metab. 2002 Apr;75(4):308-16.

PubMed [citation]
PMID:
12051962

Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.

Al-Aama JY, Al-Ghamdi S, Bdier AY, AlQarawi A, Jiman OA, Al-Aama N, Al-Aata J, Wilde AA, Bhuiyan ZA.

Clin Genet. 2015;87(1):74-9. doi: 10.1111/cge.12330. Epub 2013 Dec 27.

PubMed [citation]
PMID:
24372464
See all PubMed Citations (10)

Details of each submission

From GeneDx, SCV000234394.15

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies suggest a damaging effect with reduction of the potassium current during the cardiac action potential (Eldstorm et al. 2010); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19862833, 12653681, 25525159, 24372464, 19716085, 28438721, 32048431, 31737537, 31565860, 34426522, 31589614, 32096762, 33990467, 20421371, 34135346, 12051962, 34860437, 34505893, 23392653)

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

From AiLife Diagnostics, AiLife Diagnostics, SCV002501690.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (10)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV002544487.16

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

KCNQ1: PM1, PM2, PM5, PS3:Moderate, PS4:Moderate, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn, SCV002577360.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024