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NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 29, 2020
Accession:
VCV000264239.7
Variation ID:
264239
Description:
single nucleotide variant
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NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met)

Allele ID
258353
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113357510 (GRCh38) GRCh38 UCSC
4: 114278666 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.114278666C>G
NC_000004.12:g.113357510C>G
NM_001148.6:c.8892C>G MANE Select NP_001139.3:p.Ile2964Met missense
... more HGVS
Protein change
I2964M
Other names
-
Canonical SPDI
NC_000004.12:113357509:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00013
Exome Aggregation Consortium (ExAC) 0.00014
Trans-Omics for Precision Medicine (TOPMed) 0.00018
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Links
ClinGen: CA3051842
dbSNP: rs62313245
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 31, 2018 RCV000764528.2
Likely benign 1 criteria provided, single submitter Dec 6, 2019 RCV000242675.2
Uncertain significance 1 criteria provided, single submitter Oct 29, 2020 RCV000285338.5
Uncertain significance 1 criteria provided, single submitter Jul 17, 2018 RCV000487226.2
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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
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiac arrhythmia, ankyrin B-related
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000895611.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Jul 17, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000568993.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The I2964M variant of uncertain significance in the ANK2 gene has not been published as pathogenic or been reported as benign to our knowledge. It … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiac arrhythmia, ankyrin B-related
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000447211.3
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
(Dec 06, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000320028.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other data supporting benign classification
Uncertain significance
(Oct 29, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000627681.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces isoleucine with methionine at codon 2964 of the ANK2 protein (p.Ile2964Met). The isoleucine residue is weakly conserved and there is a … (more)

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
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 Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs62313245...

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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 12, 2021