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NM_001148.6(ANK2):c.3796+18G>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 18, 2011)
Last evaluated:
Aug 18, 2011
Accession:
VCV000035687.1
Variation ID:
35687
Description:
single nucleotide variant
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NM_001148.6(ANK2):c.3796+18G>A

Allele ID
44352
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113336799 (GRCh38) GRCh38 UCSC
4: 114257955 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.114257955G>A
NC_000004.12:g.113336799G>A
NM_001354269.1:c.3583+18G>A
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.02796 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02760
The Genome Aggregation Database (gnomAD), exomes 0.00586
The Genome Aggregation Database (gnomAD) 0.02091
Trans-Omics for Precision Medicine (TOPMed) 0.02492
Exome Aggregation Consortium (ExAC) 0.00717
1000 Genomes Project 0.02796
Links
dbSNP: rs66792339
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 18, 2011 RCV000029335.1
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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
920 936

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
uncertain
(Aug 18, 2011)
criteria provided, single submitter
Method: curation
Arrhythmia
(autosomal unknown)
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000051981.1
Submitted: (Aug 18, 2011)
Evidence details
Comment:
Converted during submission to Uncertain significance.

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 30, 2019