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.11718G>A (p.Arg3906=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 13, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000215487.8
Variation ID:
215487
Description:
single nucleotide variant
Help

NM_001148.6(ANK2):c.11718G>A (p.Arg3906=)

Allele ID
212347
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113373308 (GRCh38) GRCh38 UCSC
4: 114294464 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_327t1:c.11718G>A
LRG_327:g.560226G>A
NC_000004.11:g.114294464G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:113373307:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00031
Exome Aggregation Consortium (ExAC) 0.00043
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00092
Trans-Omics for Precision Medicine (TOPMed) 0.00106
The Genome Aggregation Database (gnomAD) 0.00108
1000 Genomes Project 0.00180
Links
ClinGen: CA338525
dbSNP: rs35724152
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV000199294.6
Likely benign 1 criteria provided, single submitter Apr 4, 2017 RCV000621817.1
Benign 1 criteria provided, single submitter Feb 5, 2018 RCV000779696.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001640298.1
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
(Feb 05, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000916448.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: ANK2 c.11718G>A alters a non-conserved nucleotide resulting in a synonymous change. Several computational tools predict a significant impact on normal splicing: Five predict … (more)
Likely benign
(Apr 04, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735843.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000252750.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001857075.1
Submitted: (Sep 13, 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 rs35724152...

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 Sep 18, 2021