ClinVar Genomic variation as it relates to human health
NM_001148.6(ANK2):c.641A>T (p.Asn214Ile)
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.641A>T (p.Asn214Ile)
Variation ID: 2542212 Accession: VCV002542212.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q26 4: 113237144 (GRCh38) [ NCBI UCSC ] 4: 114158300 (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 8, 2023 May 1, 2024 May 3, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001148.6:c.641A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001139.3:p.Asn214Ile missense NM_001127493.3:c.578A>T NP_001120965.1:p.Asn193Ile missense NM_001354225.2:c.641A>T NP_001341154.1:p.Asn214Ile missense NM_001354228.2:c.641A>T NP_001341157.1:p.Asn214Ile missense NM_001354230.2:c.686A>T NP_001341159.1:p.Asn229Ile missense NM_001354231.2:c.686A>T NP_001341160.1:p.Asn229Ile missense NM_001354232.2:c.641A>T NP_001341161.1:p.Asn214Ile missense NM_001354235.2:c.641A>T NP_001341164.1:p.Asn214Ile missense NM_001354236.2:c.641A>T NP_001341165.1:p.Asn214Ile missense NM_001354237.2:c.686A>T NP_001341166.1:p.Asn229Ile missense NM_001354239.2:c.578A>T NP_001341168.1:p.Asn193Ile missense NM_001354240.2:c.686A>T NP_001341169.1:p.Asn229Ile missense NM_001354241.2:c.686A>T NP_001341170.1:p.Asn229Ile missense NM_001354242.2:c.686A>T NP_001341171.1:p.Asn229Ile missense NM_001354243.2:c.578A>T NP_001341172.1:p.Asn193Ile missense NM_001354244.2:c.578A>T NP_001341173.1:p.Asn193Ile missense NM_001354245.2:c.641A>T NP_001341174.1:p.Asn214Ile missense NM_001354246.2:c.641A>T NP_001341175.1:p.Asn214Ile missense NM_001354249.2:c.578A>T NP_001341178.1:p.Asn193Ile missense NM_001354252.2:c.578A>T NP_001341181.1:p.Asn193Ile missense NM_001354253.2:c.578A>T NP_001341182.1:p.Asn193Ile missense NM_001354254.2:c.578A>T NP_001341183.1:p.Asn193Ile missense NM_001354255.2:c.578A>T NP_001341184.1:p.Asn193Ile missense NM_001354256.2:c.578A>T NP_001341185.1:p.Asn193Ile missense NM_001354257.2:c.578A>T NP_001341186.1:p.Asn193Ile missense NM_001354258.2:c.641A>T NP_001341187.1:p.Asn214Ile missense NM_001354260.2:c.578A>T NP_001341189.1:p.Asn193Ile missense NM_001354261.2:c.623A>T NP_001341190.1:p.Asn208Ile missense NM_001354262.2:c.578A>T NP_001341191.1:p.Asn193Ile missense NM_001354264.2:c.578A>T NP_001341193.1:p.Asn193Ile missense NM_001354265.2:c.641A>T NP_001341194.1:p.Asn214Ile missense NM_001354266.2:c.578A>T NP_001341195.1:p.Asn193Ile missense NM_001354267.2:c.578A>T NP_001341196.1:p.Asn193Ile missense NM_001354268.2:c.641A>T NP_001341197.1:p.Asn214Ile missense NM_001354269.3:c.629A>T NP_001341198.1:p.Asn210Ile missense NM_001354270.2:c.578A>T NP_001341199.1:p.Asn193Ile missense NM_001354271.2:c.578A>T NP_001341200.1:p.Asn193Ile missense NM_001354272.2:c.578A>T NP_001341201.1:p.Asn193Ile missense NM_001354273.2:c.641A>T NP_001341202.1:p.Asn214Ile missense NM_001354274.2:c.578A>T NP_001341203.1:p.Asn193Ile missense NM_001354275.2:c.578A>T NP_001341204.1:p.Asn193Ile missense NM_001354276.2:c.578A>T NP_001341205.1:p.Asn193Ile missense NM_001354277.2:c.578A>T NP_001341206.1:p.Asn193Ile missense NM_001386142.1:c.578A>T NP_001373071.1:p.Asn193Ile missense NM_001386143.1:c.578A>T NP_001373072.1:p.Asn193Ile missense NM_001386144.1:c.686A>T NP_001373073.1:p.Asn229Ile missense NM_001386146.1:c.578A>T NP_001373075.1:p.Asn193Ile missense NM_001386147.1:c.623A>T NP_001373076.1:p.Asn208Ile missense NM_001386148.2:c.629A>T NP_001373077.1:p.Asn210Ile missense NM_001386149.1:c.578A>T NP_001373078.1:p.Asn193Ile missense NM_001386150.1:c.578A>T NP_001373079.1:p.Asn193Ile missense NM_001386151.1:c.578A>T NP_001373080.1:p.Asn193Ile missense NM_001386152.1:c.686A>T NP_001373081.1:p.Asn229Ile missense NM_001386153.1:c.578A>T NP_001373082.1:p.Asn193Ile missense NM_001386154.1:c.578A>T NP_001373083.1:p.Asn193Ile missense NM_001386156.1:c.578A>T NP_001373085.1:p.Asn193Ile missense NM_001386157.1:c.578A>T NP_001373086.1:p.Asn193Ile missense NM_001386158.1:c.578A>T NP_001373087.1:p.Asn193Ile missense NM_001386160.1:c.623A>T NP_001373089.1:p.Asn208Ile missense NM_001386161.1:c.578A>T NP_001373090.1:p.Asn193Ile missense NM_001386162.1:c.578A>T NP_001373091.1:p.Asn193Ile missense NM_001386174.1:c.692A>T NP_001373103.1:p.Asn231Ile missense NM_001386175.1:c.692A>T NP_001373104.1:p.Asn231Ile missense NM_001386186.2:c.629A>T NP_001373115.1:p.Asn210Ile missense NM_001386187.2:c.629A>T NP_001373116.1:p.Asn210Ile missense NM_020977.5:c.641A>T NP_066187.2:p.Asn214Ile missense NC_000004.12:g.113237144A>T NC_000004.11:g.114158300A>T NG_009006.2:g.424062A>T NG_158358.1:g.328A>T LRG_327:g.424062A>T LRG_327t1:c.641A>T LRG_327p1:p.Asn214Ile LRG_327t2:c.578A>T LRG_327p2:p.Asn193Ile - Protein change
- N229I, N193I, N208I, N210I, N214I, N231I
- Other names
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- Canonical SPDI
- NC_000004.12:113237143:A: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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- 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
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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 |
2650 | 3234 |
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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May 3, 2023 | RCV004307855.1 |
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
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
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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
(May 03, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003975934.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The c.641A>T (p.N214I) alteration is located in exon 6 (coding exon 6) of the ANK2 gene. This alteration results from a A to T substitution … (more)
The c.641A>T (p.N214I) alteration is located in exon 6 (coding exon 6) of the ANK2 gene. This alteration results from a A to T substitution at nucleotide position 641, causing the asparagine (N) at amino acid position 214 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (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 this variant ...
HelpRecord last updated Oct 13, 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.