NM_000238.4(KCNH2):c.2952dup (p.Asn985fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 13, 2015
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:: RCV000480019.1

Allele description [Variation Report for NM_000238.4(KCNH2):c.2952dup (p.Asn985fs)]

NM_000238.4(KCNH2):c.2952dup (p.Asn985fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_000238.4(KCNH2):c.2952dup (p.Asn985fs)

HGVS:

NC_000007.14:g.150947619dup
NG_008916.1:g.35308dup
NM_000238.4:c.2952dupMANE SELECT
NM_172057.3:c.1932dup
NP_000229.1:p.Asn985fs
NP_742054.1:p.Asn645fs
LRG_288:g.35308dup
NC_000007.13:g.150644707dup
NM_000238.2:c.2952dupC

Protein change:

N645fs

Links:

dbSNP: rs1554424254

NCBI 1000 Genomes Browser:

rs1554424254

Molecular consequence:

NM_000238.4:c.2952dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172057.3:c.1932dup - 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
SCV000566157	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 13, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000566157

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 13, 2015)

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, SCV000566157.2

#	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.2952dupC variant in the KCNH2 gene has not been reported to our knowledge, this duplication causes a shift in reading frame starting at codon Asparagine 985, changing it to a Glutamine, and creating a premature stop codon at position 134 of the new reading frame, denoted p.Asn985GlnfsX134. This variant is expected to result in an abnormal, truncated protein product. Other frameshift variants in the KCNH2 gene have been reported in HGMD in association with LQTS (Stenson P et al., 2014). In summary, c.2952dupC 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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