NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs) AND Abnormality of the cardiovascular system

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 10, 2021
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:: RCV001814172.3

Allele description [Variation Report for NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs)]

NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs)

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.733_734del (p.Gly245fs)

HGVS:

NC_000011.10:g.2572062_2572063del
NG_008935.1:g.132072_132073del
NM_000218.3:c.733_734delMANE SELECT
NM_001406836.1:c.733_734delGG
NM_001406837.1:c.463_464delGG
NM_181798.2:c.352_353delGG
NP_000209.2:p.Gly245Argfs
NP_000209.2:p.Gly245fs
NP_001393765.1:p.Gly245Argfs
NP_001393766.1:p.Gly155Argfs
NP_861463.1:p.Gly118Argfs
NP_861463.1:p.Gly118fs
LRG_287t1:c.733_734del
LRG_287t2:c.352_353del
LRG_287:g.132072_132073del
LRG_287p1:p.Gly245Argfs
LRG_287p2:p.Gly118fs
NC_000011.9:g.2593292_2593293del
NM_000218.2:c.733_734delGG
NM_000218.2:c.733_734delGG
NM_000218.3:c.733_734delGGMANE SELECT
NM_181798.1:c.352_353del
NR_040711.2:n.626_627delGG

Protein change:

G118fs

Links:

dbSNP: rs1554893092

NCBI 1000 Genomes Browser:

rs1554893092

Molecular consequence:

NM_000218.3:c.733_734del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406836.1:c.733_734delGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406837.1:c.463_464delGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181798.2:c.352_353delGG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Abnormality of the cardiovascular system
Identifiers:: MedGen: C0243050; Human Phenotype Ontology: HP:0001626

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001755650	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001755650

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 10, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755650.1

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

#	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: Mar 26, 2023

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