The p.G3871E variant (also known as c.11612G>A), located in coding exon 44 of the ANK2 gene, results from a G to A substitution at nucleotide position 11612. The glycine at codon 3871 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001148.6(ANK2):c.11612G>A (p.Gly3871Glu)
Germline
Classification
Help
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.
(1)
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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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001148.6(ANK2):c.11612G>A (p.Gly3871Glu)
Variation ID: 1736701 Accession: VCV001736701.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q26 4: 113373091 (GRCh38) [ NCBI UCSC ] 4: 114294247 (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 Nov 29, 2022 May 1, 2024 Sep 27, 2018 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001148.6:c.11612G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001139.3:p.Gly3871Glu missense NM_001127493.3:c.5330G>A NP_001120965.1:p.Gly1777Glu missense NM_001354225.2:c.5369G>A NP_001341154.1:p.Gly1790Glu missense NM_001354228.2:c.5351G>A NP_001341157.1:p.Gly1784Glu missense NM_001354230.2:c.5336G>A NP_001341159.1:p.Gly1779Glu missense NM_001354231.2:c.5492G>A NP_001341160.1:p.Gly1831Glu missense NM_001354232.2:c.5486G>A NP_001341161.1:p.Gly1829Glu missense NM_001354235.2:c.5447G>A NP_001341164.1:p.Gly1816Glu missense NM_001354236.2:c.5255G>A NP_001341165.1:p.Gly1752Glu missense NM_001354237.2:c.5435G>A NP_001341166.1:p.Gly1812Glu missense NM_001354239.2:c.5420G>A NP_001341168.1:p.Gly1807Glu missense NM_001354240.2:c.5402G>A NP_001341169.1:p.Gly1801Glu missense NM_001354241.2:c.5402G>A NP_001341170.1:p.Gly1801Glu missense NM_001354242.2:c.5399G>A NP_001341171.1:p.Gly1800Glu missense NM_001354243.2:c.5387G>A NP_001341172.1:p.Gly1796Glu missense NM_001354244.2:c.5384G>A NP_001341173.1:p.Gly1795Glu missense NM_001354245.2:c.5195G>A NP_001341174.1:p.Gly1732Glu missense NM_001354246.2:c.5354G>A NP_001341175.1:p.Gly1785Glu missense NM_001354249.2:c.5171G>A NP_001341178.1:p.Gly1724Glu missense NM_001354252.2:c.5327G>A NP_001341181.1:p.Gly1776Glu missense NM_001354253.2:c.5132G>A NP_001341182.1:p.Gly1711Glu missense NM_001354254.2:c.5306G>A NP_001341183.1:p.Gly1769Glu missense NM_001354255.2:c.5294G>A NP_001341184.1:p.Gly1765Glu missense NM_001354256.2:c.5291G>A NP_001341185.1:p.Gly1764Glu missense NM_001354257.2:c.5096G>A NP_001341186.1:p.Gly1699Glu missense NM_001354258.2:c.5258G>A NP_001341187.1:p.Gly1753Glu missense NM_001354260.2:c.5072G>A NP_001341189.1:p.Gly1691Glu missense NM_001354261.2:c.5216G>A NP_001341190.1:p.Gly1739Glu missense NM_001354262.2:c.5195G>A NP_001341191.1:p.Gly1732Glu missense NM_001354264.2:c.5192G>A NP_001341193.1:p.Gly1731Glu missense NM_001354265.2:c.5354G>A NP_001341194.1:p.Gly1785Glu missense NM_001354266.2:c.5171G>A NP_001341195.1:p.Gly1724Glu missense NM_001354267.2:c.5171G>A NP_001341196.1:p.Gly1724Glu missense NM_001354268.2:c.5159G>A NP_001341197.1:p.Gly1720Glu missense NM_001354269.3:c.5144G>A NP_001341198.1:p.Gly1715Glu missense NM_001354270.2:c.5132G>A NP_001341199.1:p.Gly1711Glu missense NM_001354271.2:c.5072G>A NP_001341200.1:p.Gly1691Glu missense NM_001354272.2:c.5228G>A NP_001341201.1:p.Gly1743Glu missense NM_001354273.2:c.5057G>A NP_001341202.1:p.Gly1686Glu missense NM_001354274.2:c.5216G>A NP_001341203.1:p.Gly1739Glu missense NM_001354275.2:c.5195G>A NP_001341204.1:p.Gly1732Glu missense NM_001354276.2:c.5171G>A NP_001341205.1:p.Gly1724Glu missense NM_001354277.2:c.4973G>A NP_001341206.1:p.Gly1658Glu missense NM_001354278.2:c.2885G>A NP_001341207.1:p.Gly962Glu missense NM_001354279.2:c.2921G>A NP_001341208.1:p.Gly974Glu missense NM_001354280.2:c.2906G>A NP_001341209.1:p.Gly969Glu missense NM_001354281.2:c.2885G>A NP_001341210.1:p.Gly962Glu missense NM_001354282.2:c.2921G>A NP_001341211.1:p.Gly974Glu missense NM_001386142.1:c.11378G>A NP_001373071.1:p.Gly3793Glu missense NM_001386143.1:c.5387G>A NP_001373072.1:p.Gly1796Glu missense NM_001386144.1:c.5495G>A NP_001373073.1:p.Gly1832Glu missense NM_001386146.1:c.5231G>A NP_001373075.1:p.Gly1744Glu missense NM_001386147.1:c.5183G>A NP_001373076.1:p.Gly1728Glu missense NM_001386148.2:c.5342G>A NP_001373077.1:p.Gly1781Glu missense NM_001386149.1:c.5138G>A NP_001373078.1:p.Gly1713Glu missense NM_001386150.1:c.5231G>A NP_001373079.1:p.Gly1744Glu missense NM_001386151.1:c.5165G>A NP_001373080.1:p.Gly1722Glu missense NM_001386152.1:c.5412+3286G>A intron variant NM_001386153.1:c.5138G>A NP_001373082.1:p.Gly1713Glu missense NM_001386154.1:c.5123G>A NP_001373083.1:p.Gly1708Glu missense NM_001386156.1:c.5096G>A NP_001373085.1:p.Gly1699Glu missense NM_001386157.1:c.4973G>A NP_001373086.1:p.Gly1658Glu missense NM_001386158.1:c.4874G>A NP_001373087.1:p.Gly1625Glu missense NM_001386160.1:c.5201G>A NP_001373089.1:p.Gly1734Glu missense NM_001386161.1:c.5291G>A NP_001373090.1:p.Gly1764Glu missense NM_001386162.1:c.5171G>A NP_001373091.1:p.Gly1724Glu missense NM_001386166.1:c.8012G>A NP_001373095.1:p.Gly2671Glu missense NM_001386167.1:c.1850G>A NP_001373096.1:p.Gly617Glu missense NM_001386174.1:c.11846G>A NP_001373103.1:p.Gly3949Glu missense NM_001386175.1:c.11822G>A NP_001373104.1:p.Gly3941Glu missense NM_001386186.2:c.5342G>A NP_001373115.1:p.Gly1781Glu missense NM_001386187.2:c.5222G>A NP_001373116.1:p.Gly1741Glu missense NM_020977.5:c.5357G>A NP_066187.2:p.Gly1786Glu missense NC_000004.12:g.113373091G>A NC_000004.11:g.114294247G>A NG_009006.2:g.560009G>A LRG_327:g.560009G>A LRG_327t1:c.11612G>A LRG_327p1:p.Gly3871Glu LRG_327t2:c.5330G>A LRG_327p2:p.Gly1777Glu - Protein change
- G1691E, G1699E, G1722E, G1728E, G1741E, G1743E, G1744E, G1765E, G1776E, G1812E, G1816E, G1831E, G3793E, G617E, G962E, G974E, G1711E, G1715E, G1720E, G1724E, G1734E, G1769E, G1777E, G1796E, G1829E, G1832E, G3871E, G3941E, G1731E, G1753E, G1785E, G1790E, G1800E, G1807E, G3949E, G1625E, G1658E, G1686E, G1708E, G1713E, G1732E, G1739E, G1752E, G1764E, G1779E, G1781E, G1784E, G1786E, G1795E, G1801E, G2671E, G969E
- Other names
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- Canonical SPDI
- NC_000004.12:113373090:G: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
Help
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 | ||
|---|---|---|---|---|---|---|
| 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
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 |
2683 | 3270 | |
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
Help
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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Sep 27, 2018 | RCV002375544.2 |
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
(Sep 27, 2018)
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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: SCV002624594.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.G3871E variant (also known as c.11612G>A), located in coding exon 44 of the ANK2 gene, results from a G to A substitution at nucleotide … (more)
The p.G3871E variant (also known as c.11612G>A), located in coding exon 44 of the ANK2 gene, results from a G to A substitution at nucleotide position 11612. The glycine at codon 3871 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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Comment:
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. |
Comment:
The p.G3871E variant (also known as c.11612G>A), located in coding exon 44 of the ANK2 gene, results from a G to A substitution at nucleotide position 11612. The glycine at codon 3871 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There 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 May 01, 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.