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

This record was updated by the submitter. Please see the current version.

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:: RCV000182091.23

Allele description

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:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RNA polymerase sigma factor, sigma-54 family [Chlamydia pneumoniae AR39]
RNA polymerase sigma factor, sigma-54 family [Chlamydia pneumoniae AR39]
gi|8163554|gb|AAF73732.1||gnl|TIGR| 1

Protein
del(6q21)
del(6q21)

MedGen
Deletion 1p36
Deletion 1p36

MedGen
del(17p13)
del(17p13)

MedGen
del(10q24q25)
del(10q24q25)

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000234394	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jun 28, 2023)	germline	clinical testing	Citation Link,
SCV002501690	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 30, 2021)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 12051962, 24372464, 31589614, 32048431, 20421371, 19716085, 34135346, 31737537, 25525159, 25741868
SCV002544487	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jun 1, 2023)	germline	clinical testing	Citation Link,
SCV002577360	Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 2, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From AiLife Diagnostics, AiLife Diagnostics, SCV002501690.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (10)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV002544487.14

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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