NM_000238.4(KCNH2):c.743T>G (p.Leu248Arg) AND Long QT syndrome 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 22, 2022
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:: RCV002052122.3

Allele description [Variation Report for NM_000238.4(KCNH2):c.743T>G (p.Leu248Arg)]

NM_000238.4(KCNH2):c.743T>G (p.Leu248Arg)

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.743T>G (p.Leu248Arg)

HGVS:

NC_000007.14:g.150958232A>C
NG_008916.1:g.24695T>G
NM_000238.4:c.743T>GMANE SELECT
NM_001406753.1:c.455T>G
NM_001406755.1:c.566T>G
NM_001406756.1:c.455T>G
NM_001406757.1:c.443T>G
NM_172056.3:c.743T>G
NP_000229.1:p.Leu248Arg
NP_000229.1:p.Leu248Arg
NP_001393682.1:p.Leu152Arg
NP_001393684.1:p.Leu189Arg
NP_001393685.1:p.Leu152Arg
NP_001393686.1:p.Leu148Arg
NP_742053.1:p.Leu248Arg
NP_742053.1:p.Leu248Arg
LRG_288t1:c.743T>G
LRG_288t2:c.743T>G
LRG_288:g.24695T>G
LRG_288p1:p.Leu248Arg
LRG_288p2:p.Leu248Arg
NC_000007.13:g.150655320A>C
NM_000238.3:c.743T>G
NM_172056.2:c.743T>G
NR_176254.1:n.1151T>G

Protein change:

L148R

Links:

dbSNP: rs1801446711

NCBI 1000 Genomes Browser:

rs1801446711

Molecular consequence:

NM_000238.4:c.743T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406753.1:c.455T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406755.1:c.566T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406756.1:c.455T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406757.1:c.443T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172056.3:c.743T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV002318591	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 22, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002318591

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 22, 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	1	not provided	not provided	1	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

Details of each submission

From 3billion, SCV002318591.1

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

Description

The variant is not observed in the gnomAD v2.1.1 dataset. A missense variant is a common mechanism. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Dec 24, 2023

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