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NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 9, 2020
Accession:
VCV000264303.8
Variation ID:
264303
Description:
single nucleotide variant
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NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)

Allele ID
258340
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113353849 (GRCh38) GRCh38 UCSC
4: 114275005 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.114275005C>A
NC_000004.12:g.113353849C>A
NM_001148.6:c.5231C>A MANE Select NP_001139.3:p.Ala1744Asp missense
... more HGVS
Protein change
A1744D
Other names
-
Canonical SPDI
NC_000004.12:113353848:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00007
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Links
ClinGen: CA3051190
dbSNP: rs147706514
Varsome
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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 Apr 19, 2019 RCV000243394.2
Uncertain significance 1 criteria provided, single submitter May 25, 2018 RCV000498222.1
Likely benign 1 criteria provided, single submitter May 27, 2019 RCV001194188.1
Uncertain significance 1 criteria provided, single submitter Apr 9, 2020 RCV001239833.2
Uncertain significance 1 no assertion criteria provided Jan 1, 2019 RCV001252394.1
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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
(May 25, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000589398.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant of uncertain significance has been identified in the ANK2 gene. The A1744D variant has not been published as pathogenic or been reported as … (more)
Likely benign
(May 27, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001363533.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: ANK2 c.5231C>A (p.Ala1744Asp) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Uncertain significance
(Apr 19, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000320143.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.A1744D variant (also known as c.5231C>A), located in coding exon 38 of the ANK2 gene, results from a C to A substitution at nucleotide … (more)
Uncertain significance
(Apr 09, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV001412734.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces alanine with aspartic acid at codon 1744 of the ANK2 protein (p.Ala1744Asp). The alanine residue is weakly conserved and there is … (more)
Uncertain significance
(Jan 01, 2019)
no assertion criteria provided
Method: clinical testing
Intellectual disability
Allele origin: unknown
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Accession: SCV001428149.1
Submitted: (May 05, 2020)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Lopes LR Heart (British Cardiac Society) 2015 PMID: 25351510
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. Lopes LR Journal of medical genetics 2013 PMID: 23396983

Text-mined citations for rs147706514...

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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 Aug 17, 2021