NM_000238.4(KCNH2):c.2690_2691delinsC (p.Lys897fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 20, 2013
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:: RCV000181986.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.2690_2691delinsC (p.Lys897fs)]

NM_000238.4(KCNH2):c.2690_2691delinsC (p.Lys897fs)

Gene:

KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_000238.4(KCNH2):c.2690_2691delinsC (p.Lys897fs)

HGVS:

NC_000007.14:g.150948445_150948446delinsG
NG_008916.1:g.34481_34482delinsC
NM_000238.4:c.2690_2691delinsCMANE SELECT
NM_172057.3:c.1670_1671delinsC
NP_000229.1:p.Lys897fs
NP_742054.1:p.Lys557fs
LRG_288:g.34481_34482delinsC
NC_000007.13:g.150645533_150645534delinsG
NM_000238.2:c.2690_2691delinsC
p.K897TfsX77

Protein change:

K557fs

Links:

dbSNP: rs794728448

NCBI 1000 Genomes Browser:

rs794728448

Molecular consequence:

NM_000238.4:c.2690_2691delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172057.3:c.1670_1671delinsC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000234289	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 20, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000234289

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 20, 2013)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000234289.3

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

Description

Although the c.2690_2691delinsC variant in the KCNH2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Lysine 897, changing it to a Threonine, and creating a premature stop codon at position 77 of the new reading frame, denoted p.Lys897ThrfsX77. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the KCNH2 gene have been reported in association with LQTS. In summary, c.2690_2691delAGinsC in the KCNH2 gene is interpreted as a pathogenic variant.

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

Last Updated: Nov 5, 2022

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