NM_000238.4(KCNH2):c.682G>C (p.Ala228Pro) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 8, 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:: RCV003343962.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.682G>C (p.Ala228Pro)]

NM_000238.4(KCNH2):c.682G>C (p.Ala228Pro)

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.682G>C (p.Ala228Pro)

HGVS:

NC_000007.14:g.150958293C>G
NG_008916.1:g.24634G>C
NG_112816.1:g.651C>G
NM_000238.4:c.682G>CMANE SELECT
NM_001406753.1:c.394G>C
NM_001406755.1:c.505G>C
NM_001406756.1:c.394G>C
NM_001406757.1:c.382G>C
NM_172056.3:c.682G>C
NP_000229.1:p.Ala228Pro
NP_000229.1:p.Ala228Pro
NP_001393682.1:p.Ala132Pro
NP_001393684.1:p.Ala169Pro
NP_001393685.1:p.Ala132Pro
NP_001393686.1:p.Ala128Pro
NP_742053.1:p.Ala228Pro
NP_742053.1:p.Ala228Pro
LRG_288t1:c.682G>C
LRG_288t2:c.682G>C
LRG_288t3:c.-2790G>C
LRG_288:g.24634G>C
LRG_288p1:p.Ala228Pro
LRG_288p2:p.Ala228Pro
NC_000007.13:g.150655381C>G
NM_000238.3:c.682G>C
NM_172056.2:c.682G>C
NM_172057.2:c.-2790G>C
NR_176254.1:n.1090G>C

Protein change:

A128P

Links:

dbSNP: rs989191027

NCBI 1000 Genomes Browser:

rs989191027

Molecular consequence:

NM_000238.4:c.682G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406753.1:c.394G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406755.1:c.505G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406756.1:c.394G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406757.1:c.382G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172056.3:c.682G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_176254.1:n.1090G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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Mus musculus dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1b (...
Mus musculus dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1b (Dyrk1b), transcript variant 2, mRNA
gi|6753697|ref|NM_010092.1|

Nucleotide
protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase [Arabidopsis...
protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase [Arabidopsis thaliana]
gi|15238431|ref|NP_200758.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004074849	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 8, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004074849

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 8, 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, SCV004074849.2

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

Description

The p.A228P variant (also known as c.682G>C), located in coding exon 4 of the KCNH2 gene, results from a G to C substitution at nucleotide position 682. The alanine at codon 228 is replaced by proline, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Oct 13, 2024

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