NM_000238.4(KCNH2):c.3124C>G (p.Leu1042Val) AND Hypertrophic cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 30, 2017
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:: RCV000498076.1

Allele description [Variation Report for NM_000238.4(KCNH2):c.3124C>G (p.Leu1042Val)]

NM_000238.4(KCNH2):c.3124C>G (p.Leu1042Val)

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.3124C>G (p.Leu1042Val)

HGVS:

NC_000007.14:g.150947356G>C
NG_008916.1:g.35571C>G
NM_000238.4:c.3124C>GMANE SELECT
NM_172057.3:c.2104C>G
NP_000229.1:p.Leu1042Val
NP_000229.1:p.Leu1042Val
NP_742054.1:p.Leu702Val
LRG_288t1:c.3124C>G
LRG_288:g.35571C>G
LRG_288p1:p.Leu1042Val
NC_000007.13:g.150644444G>C
NM_000238.3:c.3124C>G
p.(Leu1024Val)

Protein change:

L1042V

Links:

dbSNP: rs1346047270

NCBI 1000 Genomes Browser:

rs1346047270

Molecular consequence:

NM_000238.4:c.3124C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.2104C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypertrophic cardiomyopathy
Synonyms:: HYPERTROPHIC MYOCARDIOPATHY
Identifiers:: MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000579565	Center for Human Genetics, University of Leuven	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 30, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579565

Center for Human Genetics, University of Leuven

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 30, 2017)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Center for Human Genetics, University of Leuven, SCV000579565.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 11, 2022

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