NM_000238.4(KCNH2):c.3404G>A (p.Arg1135His) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 18, 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:: RCV002223783.1

Allele description [Variation Report for NM_000238.4(KCNH2):c.3404G>A (p.Arg1135His)]

NM_000238.4(KCNH2):c.3404G>A (p.Arg1135His)

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.3404G>A (p.Arg1135His)

HGVS:

NC_000007.14:g.150945441C>T
NG_008916.1:g.37486G>A
NM_000238.4:c.3404G>AMANE SELECT
NM_172057.3:c.2384G>A
NP_000229.1:p.Arg1135His
NP_000229.1:p.Arg1135His
NP_742054.1:p.Arg795His
LRG_288t1:c.3404G>A
LRG_288:g.37486G>A
LRG_288p1:p.Arg1135His
NC_000007.13:g.150642529C>T
NM_000238.3:c.3404G>A

Protein change:

R1135H

Links:

dbSNP: rs199473547

NCBI 1000 Genomes Browser:

rs199473547

Molecular consequence:

NM_000238.4:c.3404G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.2384G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002502048	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 18, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18692916, 19174314, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002502048

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 18, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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	not provided	not provided	clinical testing

Citations

PubMed

A novel KCNH2 mutation as a modifier for short QT interval.

Itoh H, Sakaguchi T, Ashihara T, Ding WG, Nagaoka I, Oka Y, Nakazawa Y, Yao T, Jo H, Ito M, Nakamura K, Ohe T, Matsuura H, Horie M.

Int J Cardiol. 2009 Sep 11;137(1):83-5. doi: 10.1016/j.ijcard.2008.05.050. Epub 2008 Aug 9.

PubMed [citation]

PMID:: 18692916

Role of the R1135H KCNH2 mutation in Brugada syndrome.

Wilders R, Verkerk AO.

Int J Cardiol. 2010 Sep 24;144(1):149-51. doi: 10.1016/j.ijcard.2008.12.177. Epub 2009 Jan 27. No abstract available.

PubMed [citation]

PMID:: 19174314

See all PubMed Citations (3)

Details of each submission

From AiLife Diagnostics, AiLife Diagnostics, SCV002502048.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

#	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

Last Updated: Sep 29, 2024

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