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NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 11, 2015
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:
RCV000243613.11

Allele description [Variation Report for NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)]

NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)

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.3140G>T (p.Arg1047Leu)
HGVS:
  • NC_000007.14:g.150947340C>A
  • NG_008916.1:g.35587G>T
  • NM_000238.4:c.3140G>TMANE SELECT
  • NM_172057.3:c.2120G>T
  • NP_000229.1:p.Arg1047Leu
  • NP_000229.1:p.Arg1047Leu
  • NP_742054.1:p.Arg707Leu
  • LRG_288t1:c.3140G>T
  • LRG_288:g.35587G>T
  • LRG_288p1:p.Arg1047Leu
  • NC_000007.13:g.150644428C>A
  • NM_000238.2:c.3140G>T
  • NM_000238.3:c.3140G>T
Protein change:
R1047L
Links:
dbSNP: rs36210421
NCBI 1000 Genomes Browser:
rs36210421
Molecular consequence:
  • NM_000238.4:c.3140G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.2120G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000317415Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Jun 11, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000317415.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024