NM_000238.4(KCNH2):c.2611T>G (p.Ser871Ala) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 12, 2023
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:: RCV004522843.1

Allele description [Variation Report for NM_000238.4(KCNH2):c.2611T>G (p.Ser871Ala)]

NM_000238.4(KCNH2):c.2611T>G (p.Ser871Ala)

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.2611T>G (p.Ser871Ala)

HGVS:

NC_000007.14:g.150948525A>C
NG_008916.1:g.34402T>G
NM_000238.4:c.2611T>GMANE SELECT
NM_001406753.1:c.2323T>G
NM_172057.3:c.1591T>G
NP_000229.1:p.Ser871Ala
NP_000229.1:p.Ser871Ala
NP_001393682.1:p.Ser775Ala
NP_742054.1:p.Ser531Ala
NP_742054.1:p.Ser531Ala
LRG_288t1:c.2611T>G
LRG_288t3:c.1591T>G
LRG_288:g.34402T>G
LRG_288p1:p.Ser871Ala
LRG_288p3:p.Ser531Ala
NC_000007.13:g.150645613A>C
NM_000238.3:c.2611T>G
NM_172057.2:c.1591T>G
NR_176254.1:n.3019T>G
NR_176255.1:n.1892T>G

Protein change:

S531A

Molecular consequence:

NM_000238.4:c.2611T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406753.1:c.2323T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.1591T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_176254.1:n.3019T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176255.1:n.1892T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005033161	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005033161

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 12, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005033161.1

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

Description

The p.S871A variant (also known as c.2611T>G), located in coding exon 11 of the KCNH2 gene, results from a T to G substitution at nucleotide position 2611. The serine at codon 871 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024

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