NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Feb 15, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV003137596.5

Allele description [Variation Report for NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn)]

NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn)

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.1418C>A (p.Thr473Asn)

HGVS:

NC_000007.14:g.150952564G>T
NG_008916.1:g.30363C>A
NM_000238.4:c.1418C>AMANE SELECT
NM_001204798.2:c.398C>A
NM_001406753.1:c.1130C>A
NM_001406755.1:c.1241C>A
NM_001406756.1:c.1130C>A
NM_001406757.1:c.1118C>A
NM_172056.3:c.1418C>A
NM_172057.3:c.398C>A
NP_000229.1:p.Thr473Asn
NP_000229.1:p.Thr473Asn
NP_001191727.1:p.Thr133Asn
NP_001393682.1:p.Thr377Asn
NP_001393684.1:p.Thr414Asn
NP_001393685.1:p.Thr377Asn
NP_001393686.1:p.Thr373Asn
NP_742053.1:p.Thr473Asn
NP_742053.1:p.Thr473Asn
NP_742054.1:p.Thr133Asn
NP_742054.1:p.Thr133Asn
LRG_288t1:c.1418C>A
LRG_288t2:c.1418C>A
LRG_288t3:c.398C>A
LRG_288:g.30363C>A
LRG_288p1:p.Thr473Asn
LRG_288p2:p.Thr473Asn
LRG_288p3:p.Thr133Asn
NC_000007.13:g.150649652G>T
NM_000238.3:c.1418C>A
NM_172056.2:c.1418C>A
NM_172057.2:c.398C>A
NR_176254.1:n.1826C>A
NR_176255.1:n.699C>A
Q12809:p.Thr473Asn

Protein change:

T133N

Links:

UniProtKB: Q12809#VAR_074818; dbSNP: rs199472905

NCBI 1000 Genomes Browser:

rs199472905

Molecular consequence:

NM_000238.4:c.1418C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001204798.2:c.398C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406753.1:c.1130C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406755.1:c.1241C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406756.1:c.1130C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406757.1:c.1118C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172056.3:c.1418C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.398C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003814008	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 7, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004226794	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 15, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19716085, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003814008

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 7, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004226794

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 15, 2023)

germline

clinical testing

PubMed (2)
[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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PubMed [citation]

PMID:: 19716085
PMCID:: PMC3049907

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV003814008.2

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

#	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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004226794.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

PP2, PP3, PM1, PM2_supporting, PS4_supporting

#	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		1	not provided	not provided	not provided

Last Updated: Mar 16, 2024

ClinVar

Relating variation to medicine