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NM_001148.6(ANK2):c.10371G>A (p.Thr3457=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000238566.8
Variation ID:
238566
Description:
single nucleotide variant
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NM_001148.6(ANK2):c.10371G>A (p.Thr3457=)

Allele ID
239329
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113358989 (GRCh38) GRCh38 UCSC
4: 114280145 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_327:g.545907G>A
NC_000004.11:g.114280145G>A
NC_000004.12:g.113358989G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:113358988:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00202
Exome Aggregation Consortium (ExAC) 0.00286
The Genome Aggregation Database (gnomAD) 0.00172
1000 Genomes Project 0.00200
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00239
The Genome Aggregation Database (gnomAD), exomes 0.00250
Links
ClinGen: CA3052064
dbSNP: rs142908806
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Jan 12, 2018 RCV000625130.4
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000225793.9
Benign 1 criteria provided, single submitter Oct 17, 2016 RCV000423587.1
Likely benign 1 criteria provided, single submitter Jul 21, 2015 RCV000621086.1
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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
(Oct 17, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000516621.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
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: SCV000447225.3
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)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000286226.7
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Apr 04, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiac arrhythmia, ankyrin B-related
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743830.1
Submitted: (Apr 17, 2018)
Evidence details
Likely benign
(Jun 28, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiac arrhythmia, ankyrin B-related
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745235.1
Submitted: (Apr 09, 2018)
Evidence details
Likely benign
(Jul 21, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735817.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign

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 rs142908806...

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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