ClinVar Genomic variation as it relates to human health
NM_001148.6(ANK2):c.148T>A (p.Tyr50Asn)
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.148T>A (p.Tyr50Asn)
Variation ID: 1965476 Accession: VCV001965476.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q25 4: 113174479 (GRCh38) [ NCBI UCSC ] 4: 114095635 (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 Feb 7, 2023 Feb 20, 2024 Apr 12, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001148.6:c.148T>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001139.3:p.Tyr50Asn missense NM_001127493.3:c.85T>A NP_001120965.1:p.Tyr29Asn missense NM_001354225.2:c.148T>A NP_001341154.1:p.Tyr50Asn missense NM_001354228.2:c.148T>A NP_001341157.1:p.Tyr50Asn missense NM_001354230.2:c.193T>A NP_001341159.1:p.Tyr65Asn missense NM_001354231.2:c.193T>A NP_001341160.1:p.Tyr65Asn missense NM_001354232.2:c.148T>A NP_001341161.1:p.Tyr50Asn missense NM_001354235.2:c.148T>A NP_001341164.1:p.Tyr50Asn missense NM_001354236.2:c.148T>A NP_001341165.1:p.Tyr50Asn missense NM_001354237.2:c.193T>A NP_001341166.1:p.Tyr65Asn missense NM_001354239.2:c.85T>A NP_001341168.1:p.Tyr29Asn missense NM_001354240.2:c.193T>A NP_001341169.1:p.Tyr65Asn missense NM_001354241.2:c.193T>A NP_001341170.1:p.Tyr65Asn missense NM_001354242.2:c.193T>A NP_001341171.1:p.Tyr65Asn missense NM_001354243.2:c.85T>A NP_001341172.1:p.Tyr29Asn missense NM_001354244.2:c.85T>A NP_001341173.1:p.Tyr29Asn missense NM_001354245.2:c.148T>A NP_001341174.1:p.Tyr50Asn missense NM_001354246.2:c.148T>A NP_001341175.1:p.Tyr50Asn missense NM_001354249.2:c.85T>A NP_001341178.1:p.Tyr29Asn missense NM_001354252.2:c.85T>A NP_001341181.1:p.Tyr29Asn missense NM_001354253.2:c.85T>A NP_001341182.1:p.Tyr29Asn missense NM_001354254.2:c.85T>A NP_001341183.1:p.Tyr29Asn missense NM_001354255.2:c.85T>A NP_001341184.1:p.Tyr29Asn missense NM_001354256.2:c.85T>A NP_001341185.1:p.Tyr29Asn missense NM_001354257.2:c.85T>A NP_001341186.1:p.Tyr29Asn missense NM_001354258.2:c.148T>A NP_001341187.1:p.Tyr50Asn missense NM_001354260.2:c.85T>A NP_001341189.1:p.Tyr29Asn missense NM_001354261.2:c.130T>A NP_001341190.1:p.Tyr44Asn missense NM_001354262.2:c.85T>A NP_001341191.1:p.Tyr29Asn missense NM_001354264.2:c.85T>A NP_001341193.1:p.Tyr29Asn missense NM_001354265.2:c.148T>A NP_001341194.1:p.Tyr50Asn missense NM_001354266.2:c.85T>A NP_001341195.1:p.Tyr29Asn missense NM_001354267.2:c.85T>A NP_001341196.1:p.Tyr29Asn missense NM_001354268.2:c.148T>A NP_001341197.1:p.Tyr50Asn missense NM_001354269.3:c.136T>A NP_001341198.1:p.Tyr46Asn missense NM_001354270.2:c.85T>A NP_001341199.1:p.Tyr29Asn missense NM_001354271.2:c.85T>A NP_001341200.1:p.Tyr29Asn missense NM_001354272.2:c.85T>A NP_001341201.1:p.Tyr29Asn missense NM_001354273.2:c.148T>A NP_001341202.1:p.Tyr50Asn missense NM_001354274.2:c.85T>A NP_001341203.1:p.Tyr29Asn missense NM_001354275.2:c.85T>A NP_001341204.1:p.Tyr29Asn missense NM_001354276.2:c.85T>A NP_001341205.1:p.Tyr29Asn missense NM_001354277.2:c.85T>A NP_001341206.1:p.Tyr29Asn missense NM_001386142.1:c.85T>A NP_001373071.1:p.Tyr29Asn missense NM_001386143.1:c.85T>A NP_001373072.1:p.Tyr29Asn missense NM_001386144.1:c.193T>A NP_001373073.1:p.Tyr65Asn missense NM_001386146.1:c.85T>A NP_001373075.1:p.Tyr29Asn missense NM_001386147.1:c.130T>A NP_001373076.1:p.Tyr44Asn missense NM_001386148.2:c.136T>A NP_001373077.1:p.Tyr46Asn missense NM_001386149.1:c.85T>A NP_001373078.1:p.Tyr29Asn missense NM_001386150.1:c.85T>A NP_001373079.1:p.Tyr29Asn missense NM_001386151.1:c.85T>A NP_001373080.1:p.Tyr29Asn missense NM_001386152.1:c.193T>A NP_001373081.1:p.Tyr65Asn missense NM_001386153.1:c.85T>A NP_001373082.1:p.Tyr29Asn missense NM_001386154.1:c.85T>A NP_001373083.1:p.Tyr29Asn missense NM_001386156.1:c.85T>A NP_001373085.1:p.Tyr29Asn missense NM_001386157.1:c.85T>A NP_001373086.1:p.Tyr29Asn missense NM_001386158.1:c.85T>A NP_001373087.1:p.Tyr29Asn missense NM_001386160.1:c.130T>A NP_001373089.1:p.Tyr44Asn missense NM_001386161.1:c.85T>A NP_001373090.1:p.Tyr29Asn missense NM_001386162.1:c.85T>A NP_001373091.1:p.Tyr29Asn missense NM_001386174.1:c.199T>A NP_001373103.1:p.Tyr67Asn missense NM_001386175.1:c.199T>A NP_001373104.1:p.Tyr67Asn missense NM_001386186.2:c.136T>A NP_001373115.1:p.Tyr46Asn missense NM_001386187.2:c.136T>A NP_001373116.1:p.Tyr46Asn missense NM_020977.5:c.148T>A NP_066187.2:p.Tyr50Asn missense NC_000004.12:g.113174479T>A NC_000004.11:g.114095635T>A NG_009006.2:g.361397T>A LRG_327:g.361397T>A LRG_327t1:c.148T>A LRG_327p1:p.Tyr50Asn LRG_327t2:c.85T>A LRG_327p2:p.Tyr29Asn - Protein change
- Y50N, Y65N, Y67N, Y29N, Y44N, Y46N
- Other names
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- Canonical SPDI
- NC_000004.12:113174478:T:A
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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 |
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
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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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Apr 12, 2022 | RCV002745281.3 |
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
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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
(Apr 12, 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: SCV003007043.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 50 of the ANK2 protein (p.Tyr50Asn). … (more)
This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 50 of the ANK2 protein (p.Tyr50Asn). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. 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: "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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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 Sep 29, 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.