NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) AND Long QT syndrome 2

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Sep 17, 2021
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:: RCV001031014.5

Allele description [Variation Report for NM_000238.4(KCNH2):c.2266A>G (p.Met756Val)]

NM_000238.4(KCNH2):c.2266A>G (p.Met756Val)

Gene:

KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_000238.4(KCNH2):c.2266A>G (p.Met756Val)

HGVS:

NC_000007.14:g.150950300T>C
NG_008916.1:g.32627A>G
NM_000238.4:c.2266A>GMANE SELECT
NM_001204798.2:c.1246A>G
NM_001406753.1:c.1978A>G
NM_001406755.1:c.2089A>G
NM_001406756.1:c.1978A>G
NM_001406757.1:c.1966A>G
NM_172056.3:c.2266A>G
NM_172057.3:c.1246A>G
NP_000229.1:p.Met756Val
NP_000229.1:p.Met756Val
NP_001191727.1:p.Met416Val
NP_001393682.1:p.Met660Val
NP_001393684.1:p.Met697Val
NP_001393685.1:p.Met660Val
NP_001393686.1:p.Met656Val
NP_742053.1:p.Met756Val
NP_742053.1:p.Met756Val
NP_742054.1:p.Met416Val
NP_742054.1:p.Met416Val
LRG_288t1:c.2266A>G
LRG_288t2:c.2266A>G
LRG_288t3:c.1246A>G
LRG_288:g.32627A>G
LRG_288p1:p.Met756Val
LRG_288p2:p.Met756Val
LRG_288p3:p.Met416Val
NC_000007.13:g.150647388T>C
NM_000238.3:c.2266A>G
NM_172056.2:c.2266A>G
NM_172057.2:c.1246A>G
NR_176254.1:n.2674A>G
NR_176255.1:n.1547A>G
p.M756V

Protein change:

M416V

Links:

dbSNP: rs199473534

NCBI 1000 Genomes Browser:

rs199473534

Molecular consequence:

NM_000238.4:c.2266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204798.2:c.1246A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406753.1:c.1978A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406755.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406756.1:c.1978A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406757.1:c.1966A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172056.3:c.2266A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.1246A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Long QT syndrome 2 (LQT2)
Identifiers:: MONDO: MONDO:0013367; MedGen: C3150943; Orphanet: 101016; Orphanet: 768; OMIM: 613688

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001160808	Cavalleri Lab, Royal College of Surgeons in Ireland	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 11, 2019)	maternal	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 32238909
SCV002320705	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Pathogenic (Sep 17, 2021)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001160808

Cavalleri Lab, Royal College of Surgeons in Ireland

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 11, 2019)

maternal

research

PubMed (2)
[See all records that cite these PMIDs]

SCV002320705

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Pathogenic
(Sep 17, 2021)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

Benson KA, White M, Allen NM, Byrne S, Carton R, Comerford E, Costello D, Doherty C, Dunleavey B, El-Naggar H, Gangadharan N, Heavin S, Kearney H, Lench NJ, Lynch J, McCormack M, Regan MO, Podesta K, Power K, Rogers AS, Steward CA, Sweeney B, et al.

Eur J Hum Genet. 2020 Aug;28(8):1066-1077. doi: 10.1038/s41431-020-0610-3. Epub 2020 Apr 1.

PubMed [citation]

PMID:: 32238909
PMCID:: PMC7381648

Details of each submission

From Cavalleri Lab, Royal College of Surgeons in Ireland, SCV001160808.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

Description

ACMG evidence PS3, PM2, PP2,PP3,PP5

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

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV002320705.1

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

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

Last Updated: Sep 29, 2024

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