ClinVar Genomic variation as it relates to human health
NM_001148.6(ANK2):c.11683G>C (p.Val3895Leu)
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.11683G>C (p.Val3895Leu)
Variation ID: 191416 Accession: VCV000191416.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q26 4: 113373162 (GRCh38) [ NCBI UCSC ] 4: 114294318 (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 4, 2015 Jun 4, 2015 Jun 24, 2013 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001148.6:c.11683G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001139.3:p.Val3895Leu missense NM_001127493.3:c.5401G>C NP_001120965.1:p.Val1801Leu missense NM_001354225.2:c.5440G>C NP_001341154.1:p.Val1814Leu missense NM_001354228.2:c.5422G>C NP_001341157.1:p.Val1808Leu missense NM_001354230.2:c.5407G>C NP_001341159.1:p.Val1803Leu missense NM_001354231.2:c.5563G>C NP_001341160.1:p.Val1855Leu missense NM_001354232.2:c.5557G>C NP_001341161.1:p.Val1853Leu missense NM_001354235.2:c.5518G>C NP_001341164.1:p.Val1840Leu missense NM_001354236.2:c.5326G>C NP_001341165.1:p.Val1776Leu missense NM_001354237.2:c.5506G>C NP_001341166.1:p.Val1836Leu missense NM_001354239.2:c.5491G>C NP_001341168.1:p.Val1831Leu missense NM_001354240.2:c.5473G>C NP_001341169.1:p.Val1825Leu missense NM_001354241.2:c.5473G>C NP_001341170.1:p.Val1825Leu missense NM_001354242.2:c.5470G>C NP_001341171.1:p.Val1824Leu missense NM_001354243.2:c.5458G>C NP_001341172.1:p.Val1820Leu missense NM_001354244.2:c.5455G>C NP_001341173.1:p.Val1819Leu missense NM_001354245.2:c.5266G>C NP_001341174.1:p.Val1756Leu missense NM_001354246.2:c.5425G>C NP_001341175.1:p.Val1809Leu missense NM_001354249.2:c.5242G>C NP_001341178.1:p.Val1748Leu missense NM_001354252.2:c.5398G>C NP_001341181.1:p.Val1800Leu missense NM_001354253.2:c.5203G>C NP_001341182.1:p.Val1735Leu missense NM_001354254.2:c.5377G>C NP_001341183.1:p.Val1793Leu missense NM_001354255.2:c.5365G>C NP_001341184.1:p.Val1789Leu missense NM_001354256.2:c.5362G>C NP_001341185.1:p.Val1788Leu missense NM_001354257.2:c.5167G>C NP_001341186.1:p.Val1723Leu missense NM_001354258.2:c.5329G>C NP_001341187.1:p.Val1777Leu missense NM_001354260.2:c.5143G>C NP_001341189.1:p.Val1715Leu missense NM_001354261.2:c.5287G>C NP_001341190.1:p.Val1763Leu missense NM_001354262.2:c.5266G>C NP_001341191.1:p.Val1756Leu missense NM_001354264.2:c.5263G>C NP_001341193.1:p.Val1755Leu missense NM_001354265.2:c.5425G>C NP_001341194.1:p.Val1809Leu missense NM_001354266.2:c.5242G>C NP_001341195.1:p.Val1748Leu missense NM_001354267.2:c.5242G>C NP_001341196.1:p.Val1748Leu missense NM_001354268.2:c.5230G>C NP_001341197.1:p.Val1744Leu missense NM_001354269.3:c.5215G>C NP_001341198.1:p.Val1739Leu missense NM_001354270.2:c.5203G>C NP_001341199.1:p.Val1735Leu missense NM_001354271.2:c.5143G>C NP_001341200.1:p.Val1715Leu missense NM_001354272.2:c.5299G>C NP_001341201.1:p.Val1767Leu missense NM_001354273.2:c.5128G>C NP_001341202.1:p.Val1710Leu missense NM_001354274.2:c.5287G>C NP_001341203.1:p.Val1763Leu missense NM_001354275.2:c.5266G>C NP_001341204.1:p.Val1756Leu missense NM_001354276.2:c.5242G>C NP_001341205.1:p.Val1748Leu missense NM_001354277.2:c.5044G>C NP_001341206.1:p.Val1682Leu missense NM_001354278.2:c.2956G>C NP_001341207.1:p.Val986Leu missense NM_001354279.2:c.2992G>C NP_001341208.1:p.Val998Leu missense NM_001354280.2:c.2977G>C NP_001341209.1:p.Val993Leu missense NM_001354281.2:c.2956G>C NP_001341210.1:p.Val986Leu missense NM_001354282.2:c.2992G>C NP_001341211.1:p.Val998Leu missense NM_001386142.1:c.11449G>C NP_001373071.1:p.Val3817Leu missense NM_001386143.1:c.5458G>C NP_001373072.1:p.Val1820Leu missense NM_001386144.1:c.5566G>C NP_001373073.1:p.Val1856Leu missense NM_001386146.1:c.5302G>C NP_001373075.1:p.Val1768Leu missense NM_001386147.1:c.5254G>C NP_001373076.1:p.Val1752Leu missense NM_001386148.2:c.5413G>C NP_001373077.1:p.Val1805Leu missense NM_001386149.1:c.5209G>C NP_001373078.1:p.Val1737Leu missense NM_001386150.1:c.5302G>C NP_001373079.1:p.Val1768Leu missense NM_001386151.1:c.5236G>C NP_001373080.1:p.Val1746Leu missense NM_001386152.1:c.5412+3357G>C intron variant NM_001386153.1:c.5209G>C NP_001373082.1:p.Val1737Leu missense NM_001386154.1:c.5194G>C NP_001373083.1:p.Val1732Leu missense NM_001386156.1:c.5167G>C NP_001373085.1:p.Val1723Leu missense NM_001386157.1:c.5044G>C NP_001373086.1:p.Val1682Leu missense NM_001386158.1:c.4945G>C NP_001373087.1:p.Val1649Leu missense NM_001386160.1:c.5272G>C NP_001373089.1:p.Val1758Leu missense NM_001386161.1:c.5362G>C NP_001373090.1:p.Val1788Leu missense NM_001386162.1:c.5242G>C NP_001373091.1:p.Val1748Leu missense NM_001386166.1:c.8083G>C NP_001373095.1:p.Val2695Leu missense NM_001386167.1:c.1921G>C NP_001373096.1:p.Val641Leu missense NM_001386174.1:c.11917G>C NP_001373103.1:p.Val3973Leu missense NM_001386175.1:c.11893G>C NP_001373104.1:p.Val3965Leu missense NM_001386186.2:c.5413G>C NP_001373115.1:p.Val1805Leu missense NM_001386187.2:c.5293G>C NP_001373116.1:p.Val1765Leu missense NM_020977.5:c.5428G>C NP_066187.2:p.Val1810Leu missense NC_000004.12:g.113373162G>C NC_000004.11:g.114294318G>C NG_009006.2:g.560080G>C LRG_327:g.560080G>C LRG_327t1:c.11683G>C - Protein change
- V1801L, V3895L, V1682L, V1739L, V1755L, V1763L, V1767L, V1840L, V1788L, V1793L, V1803L, V1809L, V1814L, V1820L, V1831L, V1710L, V1715L, V1735L, V1744L, V1748L, V1776L, V1777L, V1789L, V1808L, V1836L, V986L, V998L, V1723L, V1756L, V1800L, V1810L, V1819L, V1824L, V1825L, V1853L, V1855L, V993L, V1649L, V1732L, V1737L, V1746L, V1752L, V1758L, V1765L, V1768L, V1805L, V1856L, V2695L, V3817L, V3965L, V3973L, V641L
- Other names
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- Canonical SPDI
- NC_000004.12:113373161:G:C
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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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0.00040 (A)
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Allele frequency
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The frequency of the allele represented by this VCV record.
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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 |
2647 | 3230 |
Conditions - Germline
Condition
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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) |
criteria provided, single submitter
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Jun 24, 2013 | RCV001842514.10 |
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
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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
(Jun 24, 2013)
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criteria provided, single submitter
Method: research
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Cardiac arrhythmia
Affected status: unknown
Allele origin:
unknown
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Biesecker Lab/Clinical Genomics Section, National Institutes of Health
Study: ClinSeq
Accession: SCV000055262.1 First in ClinVar: Jun 04, 2015 Last updated: Jun 04, 2015
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for details. (less)
Medical sequencing
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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 rs72556370 ...
HelpRecord last updated Sep 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.