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NM_001148.6(ANK2):c.3255G>A (p.Ala1085=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Nov 30, 2020)
Last evaluated:
Sep 6, 2019
Accession:
VCV000377475.4
Variation ID:
377475
Description:
single nucleotide variant
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NM_001148.6(ANK2):c.3255G>A (p.Ala1085=)

Allele ID
367476
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113333084 (GRCh38) GRCh38 UCSC
4: 114254240 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.114254240G>A
NC_000004.12:g.113333084G>A
NM_001148.6:c.3255G>A MANE Select NP_001139.3:p.Ala1085= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:113333083:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
1000 Genomes Project 0.00040
Links
ClinGen: CA3050815
dbSNP: rs56173868
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 6, 2019 RCV000444684.2
Uncertain significance 1 criteria provided, single submitter Aug 30, 2016 RCV000473586.1
Uncertain significance 1 criteria provided, single submitter Sep 12, 2017 RCV000620641.1
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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
Uncertain significance
(Aug 30, 2016)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000545135.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change affects codon 1085 of the ANK2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)
Likely benign
(Oct 13, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000512035.4
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
(Sep 06, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001363531.1
Submitted: (Mar 06, 2020)
Evidence details
Uncertain significance
(Sep 12, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000738158.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.3255G>A variant (also known as p.A1085A), located in coding exon 29, results from a G to A substitution at nucleotide position 3255 of the … (more)

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 rs56173868...

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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 Jun 14, 2021