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NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000377473.6
Variation ID:
377473
Description:
single nucleotide variant
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NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)

Allele ID
367783
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113288458 (GRCh38) GRCh38 UCSC
4: 114209614 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.114209614A>G
NC_000004.12:g.113288458A>G
NM_001148.6:c.2249A>G MANE Select NP_001139.3:p.Gln750Arg missense
... more HGVS
Protein change
Q729R, Q750R, Q680R, Q721R, Q717R, Q736R, Q765R, Q684R, Q688R, Q655R, Q696R
Other names
-
Canonical SPDI
NC_000004.12:113288457:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (G)

Allele frequency
1000 Genomes Project 0.00060
Trans-Omics for Precision Medicine (TOPMed) 0.00016
The Genome Aggregation Database (gnomAD) 0.00025
Exome Aggregation Consortium (ExAC) 0.00021
The Genome Aggregation Database (gnomAD), exomes 0.00029
Links
dbSNP: rs371787039
ClinGen: CA3050488
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 7, 2016 RCV000439000.1
Likely benign 1 criteria provided, single submitter Feb 22, 2019 RCV000621543.1
Benign 1 criteria provided, single submitter Jun 20, 2017 RCV000756993.3
Likely benign 1 criteria provided, single submitter Dec 1, 2020 RCV001079965.2
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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
Likely benign
(Sep 07, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000512032.4
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)
Benign
(Jun 20, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885010.1
Submitted: (Oct 10, 2018)
Evidence details
Likely benign
(Feb 22, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000737892.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Subpopulation frequency in support of benign classification
Likely benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000627633.4
Submitted: (Jan 07, 2021)
Evidence details

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 rs371787039...

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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 May 23, 2021