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NM_001148.6(ANK2):c.11181C>T (p.Gly3727=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 3, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000413952.6
Variation ID:
413952
Description:
single nucleotide variant
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NM_001148.6(ANK2):c.11181C>T (p.Gly3727=)

Allele ID
393874
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113367714 (GRCh38) GRCh38 UCSC
4: 114288870 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_327:g.554632C>T
LRG_327t1:c.11181C>T
NC_000004.11:g.114288870C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:113367713:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Exome Aggregation Consortium (ExAC) 0.00027
The Genome Aggregation Database (gnomAD), exomes 0.00037
Links
ClinGen: CA3052241
dbSNP: rs185569619
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Jan 30, 2017 RCV000590594.4
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV001087011.1
Benign 1 criteria provided, single submitter Mar 28, 2018 RCV001144038.1
Likely benign 1 criteria provided, single submitter Sep 17, 2019 RCV001256866.1
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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
1574 1590

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 30, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697721.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The ANK2 c.11181C>T (p.Gly3727Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a … (more)
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000557188.5
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Mar 28, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiac arrhythmia, ankyrin B-related
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001304612.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Sep 17, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute
Accession: SCV001433358.1
Submitted: (Jul 24, 2020)
Evidence details
Likely benign
(May 21, 2021)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001832023.1
Submitted: (Sep 03, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs185569619...

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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 Sep 07, 2021