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NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 20, 2019)
Last evaluated:
Feb 9, 2018
Accession:
VCV000180274.2
Variation ID:
180274
Description:
3bp deletion
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NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del)

Allele ID
178538
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
4q26
Genomic location
4: 113367729-113367731 (GRCh38) GRCh38 UCSC
4: 114288885-114288887 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.114288887_114288889del
NC_000004.12:g.113367731_113367733del
NM_001148.6:c.11198_11200del MANE Select NP_001139.3:p.Gly3733del
... more HGVS
Protein change
G1639del, G3733del, G1573del, G1582del, G1586del, G1594del, G1605del, G1631del, G1638del, G1641del, G1648del, G1674del, G1520del, G1601del, G824del, G1553del, G1577del, G1593del, G1652del, G1662del, G1663del, G831del, G836del, G1548del, G1561del, G1570del, G1614del, G1615del, G1626del, G1627del, G1647del, G1660del
Other names
-
Canonical SPDI
NC_000004.12:113367728:GGGGG:GG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA346180
dbSNP: rs730880049
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Feb 9, 2018 RCV000157113.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANK2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1551 1567

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 09, 2018)
criteria provided, single submitter
Method: research
Brugada syndrome
(Autosomal dominant inheritance)
Allele origin: germline
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute
Accession: SCV001156267.1
Submitted: (Aug 20, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The ANK2 Gly3733del variant has been reported previously in 1 patient with suspected LQTS and was absent from 300 controls (Lieve KV, et al., 2004). … (more)
Uncertain significance
(May 09, 2014)
no assertion criteria provided
Method: clinical testing
Brugada syndrome
Allele origin: germline
Blueprint Genetics
Accession: SCV000206836.1
Submitted: (Feb 02, 2015)
Evidence details

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
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Lieve KV Genetic testing and molecular biomarkers 2013 PMID: 23631430

Text-mined citations for rs730880049...

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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 Apr 08, 2021