ClinVar Genomic variation as it relates to human health
NM_001148.6(ANK2):c.157G>T (p.Gly53Trp)
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.157G>T (p.Gly53Trp)
Variation ID: 930928 Accession: VCV000930928.7
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q25 4: 113174488 (GRCh38) [ NCBI UCSC ] 4: 114095644 (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 Jul 4, 2020 Feb 20, 2024 Jun 8, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001148.6:c.157G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001139.3:p.Gly53Trp missense NM_001127493.3:c.94G>T NP_001120965.1:p.Gly32Trp missense NM_001354225.2:c.157G>T NP_001341154.1:p.Gly53Trp missense NM_001354228.2:c.157G>T NP_001341157.1:p.Gly53Trp missense NM_001354230.2:c.202G>T NP_001341159.1:p.Gly68Trp missense NM_001354231.2:c.202G>T NP_001341160.1:p.Gly68Trp missense NM_001354232.2:c.157G>T NP_001341161.1:p.Gly53Trp missense NM_001354235.2:c.157G>T NP_001341164.1:p.Gly53Trp missense NM_001354236.2:c.157G>T NP_001341165.1:p.Gly53Trp missense NM_001354237.2:c.202G>T NP_001341166.1:p.Gly68Trp missense NM_001354239.2:c.94G>T NP_001341168.1:p.Gly32Trp missense NM_001354240.2:c.202G>T NP_001341169.1:p.Gly68Trp missense NM_001354241.2:c.202G>T NP_001341170.1:p.Gly68Trp missense NM_001354242.2:c.202G>T NP_001341171.1:p.Gly68Trp missense NM_001354243.2:c.94G>T NP_001341172.1:p.Gly32Trp missense NM_001354244.2:c.94G>T NP_001341173.1:p.Gly32Trp missense NM_001354245.2:c.157G>T NP_001341174.1:p.Gly53Trp missense NM_001354246.2:c.157G>T NP_001341175.1:p.Gly53Trp missense NM_001354249.2:c.94G>T NP_001341178.1:p.Gly32Trp missense NM_001354252.2:c.94G>T NP_001341181.1:p.Gly32Trp missense NM_001354253.2:c.94G>T NP_001341182.1:p.Gly32Trp missense NM_001354254.2:c.94G>T NP_001341183.1:p.Gly32Trp missense NM_001354255.2:c.94G>T NP_001341184.1:p.Gly32Trp missense NM_001354256.2:c.94G>T NP_001341185.1:p.Gly32Trp missense NM_001354257.2:c.94G>T NP_001341186.1:p.Gly32Trp missense NM_001354258.2:c.157G>T NP_001341187.1:p.Gly53Trp missense NM_001354260.2:c.94G>T NP_001341189.1:p.Gly32Trp missense NM_001354261.2:c.139G>T NP_001341190.1:p.Gly47Trp missense NM_001354262.2:c.94G>T NP_001341191.1:p.Gly32Trp missense NM_001354264.2:c.94G>T NP_001341193.1:p.Gly32Trp missense NM_001354265.2:c.157G>T NP_001341194.1:p.Gly53Trp missense NM_001354266.2:c.94G>T NP_001341195.1:p.Gly32Trp missense NM_001354267.2:c.94G>T NP_001341196.1:p.Gly32Trp missense NM_001354268.2:c.157G>T NP_001341197.1:p.Gly53Trp missense NM_001354269.3:c.145G>T NP_001341198.1:p.Gly49Trp missense NM_001354270.2:c.94G>T NP_001341199.1:p.Gly32Trp missense NM_001354271.2:c.94G>T NP_001341200.1:p.Gly32Trp missense NM_001354272.2:c.94G>T NP_001341201.1:p.Gly32Trp missense NM_001354273.2:c.157G>T NP_001341202.1:p.Gly53Trp missense NM_001354274.2:c.94G>T NP_001341203.1:p.Gly32Trp missense NM_001354275.2:c.94G>T NP_001341204.1:p.Gly32Trp missense NM_001354276.2:c.94G>T NP_001341205.1:p.Gly32Trp missense NM_001354277.2:c.94G>T NP_001341206.1:p.Gly32Trp missense NM_001386142.1:c.94G>T NP_001373071.1:p.Gly32Trp missense NM_001386143.1:c.94G>T NP_001373072.1:p.Gly32Trp missense NM_001386144.1:c.202G>T NP_001373073.1:p.Gly68Trp missense NM_001386146.1:c.94G>T NP_001373075.1:p.Gly32Trp missense NM_001386147.1:c.139G>T NP_001373076.1:p.Gly47Trp missense NM_001386148.2:c.145G>T NP_001373077.1:p.Gly49Trp missense NM_001386149.1:c.94G>T NP_001373078.1:p.Gly32Trp missense NM_001386150.1:c.94G>T NP_001373079.1:p.Gly32Trp missense NM_001386151.1:c.94G>T NP_001373080.1:p.Gly32Trp missense NM_001386152.1:c.202G>T NP_001373081.1:p.Gly68Trp missense NM_001386153.1:c.94G>T NP_001373082.1:p.Gly32Trp missense NM_001386154.1:c.94G>T NP_001373083.1:p.Gly32Trp missense NM_001386156.1:c.94G>T NP_001373085.1:p.Gly32Trp missense NM_001386157.1:c.94G>T NP_001373086.1:p.Gly32Trp missense NM_001386158.1:c.94G>T NP_001373087.1:p.Gly32Trp missense NM_001386160.1:c.139G>T NP_001373089.1:p.Gly47Trp missense NM_001386161.1:c.94G>T NP_001373090.1:p.Gly32Trp missense NM_001386162.1:c.94G>T NP_001373091.1:p.Gly32Trp missense NM_001386174.1:c.208G>T NP_001373103.1:p.Gly70Trp missense NM_001386175.1:c.208G>T NP_001373104.1:p.Gly70Trp missense NM_001386186.2:c.145G>T NP_001373115.1:p.Gly49Trp missense NM_001386187.2:c.145G>T NP_001373116.1:p.Gly49Trp missense NM_020977.5:c.157G>T NP_066187.2:p.Gly53Trp missense NC_000004.12:g.113174488G>T NC_000004.11:g.114095644G>T NG_009006.2:g.361406G>T LRG_327:g.361406G>T LRG_327t1:c.157G>T - Protein change
- G47W, G49W, G68W, G32W, G53W, G70W
- Other names
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- Canonical SPDI
- NC_000004.12:113174487:G:T
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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.
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Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00000
- Links
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
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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
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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 |
2665 | 3251 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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) |
criteria provided, single submitter
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Oct 23, 2018 | RCV001196940.2 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jun 8, 2022 | RCV003117839.5 |
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
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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
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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
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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
(Oct 23, 2018)
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criteria provided, single submitter
Method: clinical testing
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Cardiac arrhythmia, ankyrin-B-related
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001367574.2
First in ClinVar: Jul 04, 2020 Last updated: Jul 04, 2020 |
Comment:
This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in … (more)
This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. (less)
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Uncertain significance
(Jun 08, 2022)
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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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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV003789685.3
First in ClinVar: Feb 13, 2023 Last updated: Feb 20, 2024 |
Comment:
Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact … (more)
Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 53 of the ANK2 protein (p.Gly53Trp). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 930928). 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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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 rs1328490060 ...
HelpRecord last updated Oct 08, 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.