NM_000238.4(KCNH2):c.2762del (p.Gly921fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 26, 2020
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:: RCV001571314.3

Allele description [Variation Report for NM_000238.4(KCNH2):c.2762del (p.Gly921fs)]

NM_000238.4(KCNH2):c.2762del (p.Gly921fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_000238.4(KCNH2):c.2762del (p.Gly921fs)

HGVS:

NC_000007.14:g.150947812del
NG_008916.1:g.35118del
NM_000238.4:c.2762delMANE SELECT
NM_172057.3:c.1742del
NP_000229.1:p.Gly921fs
NP_742054.1:p.Gly581fs
LRG_288t1:c.2762del
LRG_288:g.35118del
NC_000007.13:g.150644897del
NC_000007.13:g.150644900del
NM_000238.2:c.2762delG
NM_000238.3:c.2762del
NM_000238.3:c.2762delG

Protein change:

G581fs

Links:

dbSNP: rs1584845263

NCBI 1000 Genomes Browser:

rs1584845263

Molecular consequence:

NM_000238.4:c.2762del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172057.3:c.1742del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001795761	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Aug 26, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001795761

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Aug 26, 2020)

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, SCV001795761.1

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

Description

Reported in association with LQTS in the published literature (Splawski et al., 2000; Tester et al., 2005); Not observed in large population cohorts (Lek et al., 2016); Reported in ClinVar (ClinVar Variant ID# 653333; Landrum et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31447099, 15840476, 10973849)

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine