NM_000218.3(KCNQ1):c.176del (p.Pro59fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 16, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000786151.2

Allele description [Variation Report for NM_000218.3(KCNQ1):c.176del (p.Pro59fs)]

NM_000218.3(KCNQ1):c.176del (p.Pro59fs)

Gene:

KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_000218.3(KCNQ1):c.176del (p.Pro59fs)

HGVS:

NC_000011.10:g.2445274del
NG_008935.1:g.5284del
NM_000218.3:c.176delMANE SELECT
NP_000209.2:p.Pro59fs
LRG_287:g.5284del
NC_000011.9:g.2466504del
NM_000218.2:c.176delC

Protein change:

P59fs

Links:

dbSNP: rs1565023136

NCBI 1000 Genomes Browser:

rs1565023136

Molecular consequence:

NM_000218.3:c.176del - 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
SCV000924826	Stanford Center for Inherited Cardiovascular Disease, Stanford University	no assertion criteria provided	Pathogenic (Aug 16, 2011)	germline	provider interpretation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000924826

Stanford Center for Inherited Cardiovascular Disease, Stanford University

no assertion criteria provided

Pathogenic
(Aug 16, 2011)

germline

provider interpretation

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	provider interpretation

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000924826.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	not provided

#	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: Mar 26, 2023

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