NM_000238.4(KCNH2):c.2966-2_2967dup AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 29, 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:: RCV001594866.11

Allele description [Variation Report for NM_000238.4(KCNH2):c.2966-2_2967dup]

NM_000238.4(KCNH2):c.2966-2_2967dup

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.2966-2_2967dup

HGVS:

NC_000007.14:g.150947515_150947518dup
NG_008916.1:g.35411_35414dup
NM_000238.4:c.2966-2_2967dupMANE SELECT
NM_172057.3:c.1946-2_1947dup
LRG_288:g.35411_35414dup
NC_000007.13:g.150644600_150644601insGCCT
NC_000007.13:g.150644603_150644606dup
NM_000238.2:c.2966-2_2967dupAGGC
p.A990RfsX130

Links:

dbSNP: rs794728464

NCBI 1000 Genomes Browser:

rs794728464

Molecular consequence:

NM_000238.4:c.2966-2_2967dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_172057.3:c.1946-2_1947dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV001829667	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (May 29, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001829667

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(May 29, 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, SCV001829667.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Canonical splice site variant with an unclear effect on protein function; In silico analysis supports a deleterious effect on splicing

#	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: May 12, 2024

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