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

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2
First in ClinVar:
Apr 21, 2018
Most recent Submission:
Jan 22, 2022
Last evaluated:
Jul 10, 2021
Accession:
VCV000438610.24
Variation ID:
438610
Description:
2bp deletion
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NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs)

Allele ID
432231
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
11p15.5
Genomic location
11: 2572061-2572062 (GRCh38) GRCh38 UCSC
11: 2593291-2593292 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000218.3:c.733_734del MANE Select NP_000209.2:p.Gly245fs frameshift
NM_000218.3:c.733_734delGG MANE Select frameshift
NM_001406836.1:c.733_734delGG NP_001393765.1:p.Gly245Argfs frameshift
... more HGVS
Protein change
G118fs, G245fs
Other names
-
Canonical SPDI
NC_000011.10:2572060:GGG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658797567
dbSNP: rs1554893092
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 10, 2021 RCV001814172.3
Pathogenic 1 no assertion criteria provided - RCV000625528.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNQ1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37 		1501 2045

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Pathogenic
(Jul 10, 2021)
 criteria provided, single submitter
(ACMG Guidelines, 2015)
Method: clinical testing
Affected status: yes
Allele origin: germline
Kariminejad - Najmabadi Pathology & Genetics Center
Accession: SCV001755650.1
First in ClinVar: Jan 22, 2022
Last updated: Jan 22, 2022
Pathogenic
(-)
 no assertion criteria provided
Method: research
(Autosomal recessive inheritance)
Affected status: yes
Allele origin: germline
Biotechnology Research Center, Pasteur Institute of Iran
Accession: SCV000584046.1
First in ClinVar: Apr 21, 2018
Last updated: Apr 21, 2018
Zygosity: 1 Homozygote
Age: 0-9 years
Sex: male

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families. Amirian A Journal of arrhythmia 2018 PMID: 29951145

Text-mined citations for rs1554893092...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Mar 26, 2023 

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