Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jul 20, 2021)
Last evaluated:
Apr 1, 2021
Accession:
VCV000220622.10
Variation ID:
220622
Description:
single nucleotide variant
Help

NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)

Allele ID
221432
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113359013 (GRCh38) GRCh38 UCSC
4: 114280169 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.114280169G>A
NC_000004.12:g.113359013G>A
NM_001148.6:c.10395G>A MANE Select NP_001139.3:p.Glu3465= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:113359012:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00300
The Genome Aggregation Database (gnomAD) 0.00204
The Genome Aggregation Database (gnomAD), exomes 0.00214
Trans-Omics for Precision Medicine (TOPMed) 0.00308
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00181
Links
ClinGen: CA348946
dbSNP: rs147423696
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 1, 2021 RCV001531409.2
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV000204743.10
Likely benign 1 criteria provided, single submitter Aug 10, 2015 RCV000252428.1
Benign 1 criteria provided, single submitter May 11, 2019 RCV001001685.1
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001094930.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 11, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001159240.1
Submitted: (Aug 05, 2019)
Evidence details
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiac arrhythmia, ankyrin B-related
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000447226.3
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
(Aug 10, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000318138.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000261311.8
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001757408.1
Submitted: (Jul 20, 2021)
Evidence details
Likely benign
(Apr 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001746489.1
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs147423696...

Help
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 Aug 17, 2021