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NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000238585.11
Variation ID:
238585
Description:
single nucleotide variant
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NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)

Allele ID
239317
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113355266 (GRCh38) GRCh38 UCSC
4: 114276422 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.114276422C>G
NC_000004.12:g.113355266C>G
NG_009006.2:g.542184C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:113355265:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00194
The Genome Aggregation Database (gnomAD), exomes 0.00221
Trans-Omics for Precision Medicine (TOPMed) 0.00225
Exome Aggregation Consortium (ExAC) 0.00229
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00223
1000 Genomes Project 0.00140
Links
ClinGen: CA3051451
dbSNP: rs140926982
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Jun 26, 2017 RCV000589293.5
Benign 1 criteria provided, single submitter Dec 6, 2020 RCV000233019.9
Likely benign 1 criteria provided, single submitter Dec 16, 2016 RCV000245460.2
Benign 1 criteria provided, single submitter Jan 31, 2020 RCV001001809.2
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV001094883.1
Benign 1 no assertion criteria provided - RCV001699076.1
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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
1582 1598

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 26, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697743.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The ANK2 c.6648C>G (p.Gly2216Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a … (more)
Benign
(Jan 31, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001159471.2
Submitted: (Dec 11, 2020)
Evidence details
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiac arrhythmia, ankyrin B-related
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000447194.3
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 16, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000318400.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000286254.7
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001851053.1
Submitted: (Sep 10, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001923868.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001932603.1
Submitted: (Sep 23, 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 rs140926982...

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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 25, 2021