NM_000238.4(KCNH2):c.2651A>G (p.Gln884Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 6, 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:: RCV000781485.1

Allele description [Variation Report for NM_000238.4(KCNH2):c.2651A>G (p.Gln884Arg)]

NM_000238.4(KCNH2):c.2651A>G (p.Gln884Arg)

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.2651A>G (p.Gln884Arg)

HGVS:

NC_000007.14:g.150948485T>C
NG_008916.1:g.34442A>G
NM_000238.4:c.2651A>GMANE SELECT
NM_172057.3:c.1631A>G
NP_000229.1:p.Gln884Arg
NP_000229.1:p.Gln884Arg
NP_742054.1:p.Gln544Arg
LRG_288t1:c.2651A>G
LRG_288:g.34442A>G
LRG_288p1:p.Gln884Arg
NC_000007.13:g.150645573T>C
NM_000238.3:c.2651A>G

Protein change:

Q544R

Links:

dbSNP: rs1563149602

NCBI 1000 Genomes Browser:

rs1563149602

Molecular consequence:

NM_000238.4:c.2651A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.1631A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000919552	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Nov 6, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000919552

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Nov 6, 2017)

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919552.1

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

Description

Variant summary: The KCNH2 c.2651A>G (p.Gln884Arg) variant causes a missense change involving the alteration of a conserved nucleotide. 3/3 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent in 244534 control chromosomes in gnomAD. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS).

#	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: Nov 5, 2022

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