ClinVar Genomic variation as it relates to human health
NM_001148.6(ANK2):c.1427A>G (p.Gln476Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001148.6(ANK2):c.1427A>G (p.Gln476Arg)
Variation ID: 487619 Accession: VCV000487619.5
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q26 4: 113264937 (GRCh38) [ NCBI UCSC ] 4: 114186093 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jun 2, 2018 Feb 20, 2024 Nov 30, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001148.6:c.1427A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001139.3:p.Gln476Arg missense NM_001127493.3:c.1364A>G NP_001120965.1:p.Gln455Arg missense NM_001354225.2:c.1427A>G NP_001341154.1:p.Gln476Arg missense NM_001354228.2:c.1427A>G NP_001341157.1:p.Gln476Arg missense NM_001354230.2:c.1472A>G NP_001341159.1:p.Gln491Arg missense NM_001354231.2:c.1472A>G NP_001341160.1:p.Gln491Arg missense NM_001354232.2:c.1427A>G NP_001341161.1:p.Gln476Arg missense NM_001354235.2:c.1427A>G NP_001341164.1:p.Gln476Arg missense NM_001354236.2:c.1427A>G NP_001341165.1:p.Gln476Arg missense NM_001354237.2:c.1472A>G NP_001341166.1:p.Gln491Arg missense NM_001354239.2:c.1364A>G NP_001341168.1:p.Gln455Arg missense NM_001354240.2:c.1472A>G NP_001341169.1:p.Gln491Arg missense NM_001354241.2:c.1472A>G NP_001341170.1:p.Gln491Arg missense NM_001354242.2:c.1472A>G NP_001341171.1:p.Gln491Arg missense NM_001354243.2:c.1364A>G NP_001341172.1:p.Gln455Arg missense NM_001354244.2:c.1364A>G NP_001341173.1:p.Gln455Arg missense NM_001354245.2:c.1427A>G NP_001341174.1:p.Gln476Arg missense NM_001354246.2:c.1427A>G NP_001341175.1:p.Gln476Arg missense NM_001354249.2:c.1340A>G NP_001341178.1:p.Gln447Arg missense NM_001354252.2:c.1364A>G NP_001341181.1:p.Gln455Arg missense NM_001354253.2:c.1364A>G NP_001341182.1:p.Gln455Arg missense NM_001354254.2:c.1364A>G NP_001341183.1:p.Gln455Arg missense NM_001354255.2:c.1364A>G NP_001341184.1:p.Gln455Arg missense NM_001354256.2:c.1364A>G NP_001341185.1:p.Gln455Arg missense NM_001354257.2:c.1364A>G NP_001341186.1:p.Gln455Arg missense NM_001354258.2:c.1427A>G NP_001341187.1:p.Gln476Arg missense NM_001354260.2:c.1340A>G NP_001341189.1:p.Gln447Arg missense NM_001354261.2:c.1385A>G NP_001341190.1:p.Gln462Arg missense NM_001354262.2:c.1364A>G NP_001341191.1:p.Gln455Arg missense NM_001354264.2:c.1340A>G NP_001341193.1:p.Gln447Arg missense NM_001354265.2:c.1427A>G NP_001341194.1:p.Gln476Arg missense NM_001354266.2:c.1340A>G NP_001341195.1:p.Gln447Arg missense NM_001354267.2:c.1340A>G NP_001341196.1:p.Gln447Arg missense NM_001354268.2:c.1427A>G NP_001341197.1:p.Gln476Arg missense NM_001354269.3:c.1217A>G NP_001341198.1:p.Gln406Arg missense NM_001354270.2:c.1364A>G NP_001341199.1:p.Gln455Arg missense NM_001354271.2:c.1340A>G NP_001341200.1:p.Gln447Arg missense NM_001354272.2:c.1364A>G NP_001341201.1:p.Gln455Arg missense NM_001354273.2:c.1229A>G NP_001341202.1:p.Gln410Arg missense NM_001354274.2:c.1340A>G NP_001341203.1:p.Gln447Arg missense NM_001354275.2:c.1364A>G NP_001341204.1:p.Gln455Arg missense NM_001354276.2:c.1340A>G NP_001341205.1:p.Gln447Arg missense NM_001354277.2:c.1142A>G NP_001341206.1:p.Gln381Arg missense NM_001386142.1:c.1340A>G NP_001373071.1:p.Gln447Arg missense NM_001386143.1:c.1364A>G NP_001373072.1:p.Gln455Arg missense NM_001386144.1:c.1472A>G NP_001373073.1:p.Gln491Arg missense NM_001386146.1:c.1340A>G NP_001373075.1:p.Gln447Arg missense NM_001386147.1:c.1385A>G NP_001373076.1:p.Gln462Arg missense NM_001386148.2:c.1415A>G NP_001373077.1:p.Gln472Arg missense NM_001386149.1:c.1340A>G NP_001373078.1:p.Gln447Arg missense NM_001386150.1:c.1340A>G NP_001373079.1:p.Gln447Arg missense NM_001386151.1:c.1340A>G NP_001373080.1:p.Gln447Arg missense NM_001386152.1:c.1472A>G NP_001373081.1:p.Gln491Arg missense NM_001386153.1:c.1340A>G NP_001373082.1:p.Gln447Arg missense NM_001386154.1:c.1340A>G NP_001373083.1:p.Gln447Arg missense NM_001386156.1:c.1364A>G NP_001373085.1:p.Gln455Arg missense NM_001386157.1:c.1142A>G NP_001373086.1:p.Gln381Arg missense NM_001386158.1:c.1142A>G NP_001373087.1:p.Gln381Arg missense NM_001386160.1:c.1385A>G NP_001373089.1:p.Gln462Arg missense NM_001386161.1:c.1364A>G NP_001373090.1:p.Gln455Arg missense NM_001386162.1:c.1340A>G NP_001373091.1:p.Gln447Arg missense NM_001386174.1:c.1478A>G NP_001373103.1:p.Gln493Arg missense NM_001386175.1:c.1454A>G NP_001373104.1:p.Gln485Arg missense NM_001386186.2:c.1415A>G NP_001373115.1:p.Gln472Arg missense NM_001386187.2:c.1391A>G NP_001373116.1:p.Gln464Arg missense NM_020977.5:c.1427A>G NP_066187.2:p.Gln476Arg missense NC_000004.12:g.113264937A>G NC_000004.11:g.114186093A>G NG_009006.2:g.451855A>G LRG_327:g.451855A>G LRG_327t1:c.1427A>G - Protein change
- Q455R, Q476R, Q462R, Q491R, Q381R, Q410R, Q406R, Q447R, Q464R, Q472R, Q485R, Q493R
- Other names
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- Canonical SPDI
- NC_000004.12:113264936:A:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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ANK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2585 | 3156 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
no assertion criteria provided
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Jul 14, 2017 | RCV000656196.1 | |
Uncertain significance (1) |
criteria provided, single submitter
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Mar 1, 2018 | RCV000701747.3 | |
Uncertain significance (1) |
criteria provided, single submitter
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Nov 30, 2021 | RCV003139879.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Nov 30, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV003818590.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Uncertain significance
(Mar 01, 2018)
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criteria provided, single submitter
Method: clinical testing
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Long QT syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000830561.3
First in ClinVar: Oct 10, 2018 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces glutamine with arginine at codon 476 of the ANK2 protein (p.Gln476Arg). The glutamine residue is highly conserved and there is a … (more)
This sequence change replaces glutamine with arginine at codon 476 of the ANK2 protein (p.Gln476Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ANK2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Jul 14, 2017)
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no assertion criteria provided
Method: research
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Wolff-Parkinson-White pattern
Affected status: yes
Allele origin:
inherited
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Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
Study: Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome
Accession: SCV000678390.1 First in ClinVar: Jun 02, 2018 Last updated: Jun 02, 2018 |
Comment:
This variant was identified in an individual with Wolff-Parkinson-White syndrome
Number of individuals with the variant: 1
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Germline Functional Evidence
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 germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs1203193073 ...
HelpRecord last updated Mar 17, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.