The p.P3829T variant (also known as c.11485C>A), located in coding exon 43 of the ANK2 gene, results from a C to A substitution at nucleotide position 11485. The proline at codon 3829 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001148.6(ANK2):c.11485C>A (p.Pro3829Thr)
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)
Help
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
-
NM_001148.6(ANK2):c.11485C>A (p.Pro3829Thr)
Variation ID: 3294799 Accession: VCV003294799.1
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 4q26 4: 113369680 (GRCh38) [ NCBI UCSC ] 4: 114290836 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Aug 11, 2024 Aug 11, 2024 Apr 1, 2024 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001148.6:c.11485C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001139.3:p.Pro3829Thr missense NM_001127493.3:c.5203C>A NP_001120965.1:p.Pro1735Thr missense NM_001354225.2:c.5242C>A NP_001341154.1:p.Pro1748Thr missense NM_001354228.2:c.5131C>A NP_001341157.1:p.Pro1711Thr missense NM_001354230.2:c.5209C>A NP_001341159.1:p.Pro1737Thr missense NM_001354231.2:c.5272C>A NP_001341160.1:p.Pro1758Thr missense NM_001354232.2:c.5266C>A NP_001341161.1:p.Pro1756Thr missense NM_001354235.2:c.5227C>A NP_001341164.1:p.Pro1743Thr missense NM_001354236.2:c.5128C>A NP_001341165.1:p.Pro1710Thr missense NM_001354237.2:c.5308C>A NP_001341166.1:p.Pro1770Thr missense NM_001354239.2:c.5200C>A NP_001341168.1:p.Pro1734Thr missense NM_001354240.2:c.5275C>A NP_001341169.1:p.Pro1759Thr missense NM_001354241.2:c.5275C>A NP_001341170.1:p.Pro1759Thr missense NM_001354242.2:c.5272C>A NP_001341171.1:p.Pro1758Thr missense NM_001354243.2:c.5167C>A NP_001341172.1:p.Pro1723Thr missense NM_001354244.2:c.5164C>A NP_001341173.1:p.Pro1722Thr missense NM_001354245.2:c.5068C>A NP_001341174.1:p.Pro1690Thr missense NM_001354246.2:c.5227C>A NP_001341175.1:p.Pro1743Thr missense NM_001354249.2:c.5044C>A NP_001341178.1:p.Pro1682Thr missense NM_001354252.2:c.5200C>A NP_001341181.1:p.Pro1734Thr missense NM_001354253.2:c.5005C>A NP_001341182.1:p.Pro1669Thr missense NM_001354254.2:c.5179C>A NP_001341183.1:p.Pro1727Thr missense NM_001354255.2:c.5167C>A NP_001341184.1:p.Pro1723Thr missense NM_001354256.2:c.5164C>A NP_001341185.1:p.Pro1722Thr missense NM_001354257.2:c.4969C>A NP_001341186.1:p.Pro1657Thr missense NM_001354258.2:c.5131C>A NP_001341187.1:p.Pro1711Thr missense NM_001354260.2:c.4945C>A NP_001341189.1:p.Pro1649Thr missense NM_001354261.2:c.5089C>A NP_001341190.1:p.Pro1697Thr missense NM_001354262.2:c.5068C>A NP_001341191.1:p.Pro1690Thr missense NM_001354264.2:c.5065C>A NP_001341193.1:p.Pro1689Thr missense NM_001354265.2:c.5227C>A NP_001341194.1:p.Pro1743Thr missense NM_001354266.2:c.5044C>A NP_001341195.1:p.Pro1682Thr missense NM_001354267.2:c.5044C>A NP_001341196.1:p.Pro1682Thr missense NM_001354268.2:c.5032C>A NP_001341197.1:p.Pro1678Thr missense NM_001354269.3:c.5017C>A NP_001341198.1:p.Pro1673Thr missense NM_001354270.2:c.5005C>A NP_001341199.1:p.Pro1669Thr missense NM_001354271.2:c.4945C>A NP_001341200.1:p.Pro1649Thr missense NM_001354272.2:c.5101C>A NP_001341201.1:p.Pro1701Thr missense NM_001354273.2:c.4930C>A NP_001341202.1:p.Pro1644Thr missense NM_001354274.2:c.4996C>A NP_001341203.1:p.Pro1666Thr missense NM_001354275.2:c.5068C>A NP_001341204.1:p.Pro1690Thr missense NM_001354276.2:c.5044C>A NP_001341205.1:p.Pro1682Thr missense NM_001354277.2:c.4846C>A NP_001341206.1:p.Pro1616Thr missense NM_001354278.2:c.2758C>A NP_001341207.1:p.Pro920Thr missense NM_001354279.2:c.2794C>A NP_001341208.1:p.Pro932Thr missense NM_001354280.2:c.2779C>A NP_001341209.1:p.Pro927Thr missense NM_001354281.2:c.2758C>A NP_001341210.1:p.Pro920Thr missense NM_001354282.2:c.2794C>A NP_001341211.1:p.Pro932Thr missense NM_001386142.1:c.11251C>A NP_001373071.1:p.Pro3751Thr missense NM_001386143.1:c.5167C>A NP_001373072.1:p.Pro1723Thr missense NM_001386144.1:c.5275C>A NP_001373073.1:p.Pro1759Thr missense NM_001386146.1:c.5011C>A NP_001373075.1:p.Pro1671Thr missense NM_001386147.1:c.5056C>A NP_001373076.1:p.Pro1686Thr missense NM_001386148.2:c.5215C>A NP_001373077.1:p.Pro1739Thr missense NM_001386149.1:c.5011C>A NP_001373078.1:p.Pro1671Thr missense NM_001386150.1:c.5011C>A NP_001373079.1:p.Pro1671Thr missense NM_001386151.1:c.4945C>A NP_001373080.1:p.Pro1649Thr missense NM_001386152.1:c.5287C>A NP_001373081.1:p.Pro1763Thr missense NM_001386153.1:c.5011C>A NP_001373082.1:p.Pro1671Thr missense NM_001386154.1:c.4996C>A NP_001373083.1:p.Pro1666Thr missense NM_001386156.1:c.4969C>A NP_001373085.1:p.Pro1657Thr missense NM_001386157.1:c.4846C>A NP_001373086.1:p.Pro1616Thr missense NM_001386158.1:c.4747C>A NP_001373087.1:p.Pro1583Thr missense NM_001386160.1:c.5074C>A NP_001373089.1:p.Pro1692Thr missense NM_001386161.1:c.5164C>A NP_001373090.1:p.Pro1722Thr missense NM_001386162.1:c.5044C>A NP_001373091.1:p.Pro1682Thr missense NM_001386166.1:c.7885C>A NP_001373095.1:p.Pro2629Thr missense NM_001386167.1:c.1630C>A NP_001373096.1:p.Pro544Thr missense NM_001386174.1:c.11626C>A NP_001373103.1:p.Pro3876Thr missense NM_001386175.1:c.11602C>A NP_001373104.1:p.Pro3868Thr missense NM_001386186.2:c.5215C>A NP_001373115.1:p.Pro1739Thr missense NM_001386187.2:c.5095C>A NP_001373116.1:p.Pro1699Thr missense NM_020977.5:c.5230C>A NP_066187.2:p.Pro1744Thr missense NC_000004.12:g.113369680C>A NC_000004.11:g.114290836C>A NG_009006.2:g.556598C>A LRG_327:g.556598C>A LRG_327t1:c.11485C>A LRG_327p1:p.Pro3829Thr LRG_327t2:c.5203C>A LRG_327p2:p.Pro1735Thr - Protein change
- P1649T, P1671T, P1678T, P1682T, P1689T, P1722T, P1735T, P1737T, P1758T, P1763T, P1644T, P1657T, P1686T, P1692T, P1701T, P1710T, P1711T, P1723T, P1743T, P1744T, P2629T, P3751T, P3829T, P544T, P920T, P1666T, P1673T, P1690T, P1748T, P1756T, P1759T, P1770T, P927T, P932T, P1583T, P1616T, P1669T, P1697T, P1699T, P1727T, P1734T, P1739T, P3868T, P3876T
- Other names
- -
- Canonical SPDI
- NC_000004.12:113369679:C:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
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. |
|||
| ANK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2690 | 3279 | |
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
Help
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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Apr 1, 2024 | RCV004640719.1 |
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
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Apr 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV005135013.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The p.P3829T variant (also known as c.11485C>A), located in coding exon 43 of the ANK2 gene, results from a C to A substitution at nucleotide … (more)
The p.P3829T variant (also known as c.11485C>A), located in coding exon 43 of the ANK2 gene, results from a C to A substitution at nucleotide position 11485. The proline at codon 3829 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. (less)
|
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.P3829T variant (also known as c.11485C>A), located in coding exon 43 of the ANK2 gene, results from a C to A substitution at nucleotide position 11485. The proline at codon 3829 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, 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 Aug 11, 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.