This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ClinVar Genomic variation as it relates to human health
NM_001148.6(ANK2):c.261G>A (p.Gly87=)
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.
(4)
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.
Benign/Likely benign
4
criteria provided, multiple submitters, no conflicts
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.261G>A (p.Gly87=)
Variation ID: 136381 Accession: VCV000136381.14
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q25 4: 113196442 (GRCh38) [ NCBI UCSC ] 4: 114117598 (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 5, 2015 May 1, 2024 Dec 9, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001148.6:c.261G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001139.3:p.Gly87= synonymous NM_001127493.3:c.198G>A NP_001120965.1:p.Gly66= synonymous NM_001354225.2:c.261G>A NP_001341154.1:p.Gly87= synonymous NM_001354228.2:c.261G>A NP_001341157.1:p.Gly87= synonymous NM_001354230.2:c.306G>A NP_001341159.1:p.Gly102= synonymous NM_001354231.2:c.306G>A NP_001341160.1:p.Gly102= synonymous NM_001354232.2:c.261G>A NP_001341161.1:p.Gly87= synonymous NM_001354235.2:c.261G>A NP_001341164.1:p.Gly87= synonymous NM_001354236.2:c.261G>A NP_001341165.1:p.Gly87= synonymous NM_001354237.2:c.306G>A NP_001341166.1:p.Gly102= synonymous NM_001354239.2:c.198G>A NP_001341168.1:p.Gly66= synonymous NM_001354240.2:c.306G>A NP_001341169.1:p.Gly102= synonymous NM_001354241.2:c.306G>A NP_001341170.1:p.Gly102= synonymous NM_001354242.2:c.306G>A NP_001341171.1:p.Gly102= synonymous NM_001354243.2:c.198G>A NP_001341172.1:p.Gly66= synonymous NM_001354244.2:c.198G>A NP_001341173.1:p.Gly66= synonymous NM_001354245.2:c.261G>A NP_001341174.1:p.Gly87= synonymous NM_001354246.2:c.261G>A NP_001341175.1:p.Gly87= synonymous NM_001354249.2:c.198G>A NP_001341178.1:p.Gly66= synonymous NM_001354252.2:c.198G>A NP_001341181.1:p.Gly66= synonymous NM_001354253.2:c.198G>A NP_001341182.1:p.Gly66= synonymous NM_001354254.2:c.198G>A NP_001341183.1:p.Gly66= synonymous NM_001354255.2:c.198G>A NP_001341184.1:p.Gly66= synonymous NM_001354256.2:c.198G>A NP_001341185.1:p.Gly66= synonymous NM_001354257.2:c.198G>A NP_001341186.1:p.Gly66= synonymous NM_001354258.2:c.261G>A NP_001341187.1:p.Gly87= synonymous NM_001354260.2:c.198G>A NP_001341189.1:p.Gly66= synonymous NM_001354261.2:c.243G>A NP_001341190.1:p.Gly81= synonymous NM_001354262.2:c.198G>A NP_001341191.1:p.Gly66= synonymous NM_001354264.2:c.198G>A NP_001341193.1:p.Gly66= synonymous NM_001354265.2:c.261G>A NP_001341194.1:p.Gly87= synonymous NM_001354266.2:c.198G>A NP_001341195.1:p.Gly66= synonymous NM_001354267.2:c.198G>A NP_001341196.1:p.Gly66= synonymous NM_001354268.2:c.261G>A NP_001341197.1:p.Gly87= synonymous NM_001354269.3:c.249G>A NP_001341198.1:p.Gly83= synonymous NM_001354270.2:c.198G>A NP_001341199.1:p.Gly66= synonymous NM_001354271.2:c.198G>A NP_001341200.1:p.Gly66= synonymous NM_001354272.2:c.198G>A NP_001341201.1:p.Gly66= synonymous NM_001354273.2:c.261G>A NP_001341202.1:p.Gly87= synonymous NM_001354274.2:c.198G>A NP_001341203.1:p.Gly66= synonymous NM_001354275.2:c.198G>A NP_001341204.1:p.Gly66= synonymous NM_001354276.2:c.198G>A NP_001341205.1:p.Gly66= synonymous NM_001354277.2:c.198G>A NP_001341206.1:p.Gly66= synonymous NM_001386142.1:c.198G>A NP_001373071.1:p.Gly66= synonymous NM_001386143.1:c.198G>A NP_001373072.1:p.Gly66= synonymous NM_001386144.1:c.306G>A NP_001373073.1:p.Gly102= synonymous NM_001386146.1:c.198G>A NP_001373075.1:p.Gly66= synonymous NM_001386147.1:c.243G>A NP_001373076.1:p.Gly81= synonymous NM_001386148.2:c.249G>A NP_001373077.1:p.Gly83= synonymous NM_001386149.1:c.198G>A NP_001373078.1:p.Gly66= synonymous NM_001386150.1:c.198G>A NP_001373079.1:p.Gly66= synonymous NM_001386151.1:c.198G>A NP_001373080.1:p.Gly66= synonymous NM_001386152.1:c.306G>A NP_001373081.1:p.Gly102= synonymous NM_001386153.1:c.198G>A NP_001373082.1:p.Gly66= synonymous NM_001386154.1:c.198G>A NP_001373083.1:p.Gly66= synonymous NM_001386156.1:c.198G>A NP_001373085.1:p.Gly66= synonymous NM_001386157.1:c.198G>A NP_001373086.1:p.Gly66= synonymous NM_001386158.1:c.198G>A NP_001373087.1:p.Gly66= synonymous NM_001386160.1:c.243G>A NP_001373089.1:p.Gly81= synonymous NM_001386161.1:c.198G>A NP_001373090.1:p.Gly66= synonymous NM_001386162.1:c.198G>A NP_001373091.1:p.Gly66= synonymous NM_001386174.1:c.312G>A NP_001373103.1:p.Gly104= synonymous NM_001386175.1:c.312G>A NP_001373104.1:p.Gly104= synonymous NM_001386186.2:c.249G>A NP_001373115.1:p.Gly83= synonymous NM_001386187.2:c.249G>A NP_001373116.1:p.Gly83= synonymous NM_020977.5:c.261G>A NP_066187.2:p.Gly87= synonymous NC_000004.12:g.113196442G>A NC_000004.11:g.114117598G>A NG_009006.2:g.383360G>A LRG_327:g.383360G>A LRG_327t1:c.261G>A - Protein change
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- Other names
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p.G87G:GGG>GGA
- Canonical SPDI
- NC_000004.12:113196441: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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0.00020 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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The Genome Aggregation Database (gnomAD), exomes 0.00013
Exome Aggregation Consortium (ExAC) 0.00015
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00054
The Genome Aggregation Database (gnomAD) 0.00064
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
- 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. |
|---|---|---|---|---|
| Benign (1) |
criteria provided, single submitter
|
Sep 13, 2013 | RCV000123630.3 | |
| Likely benign (1) |
criteria provided, single submitter
|
Jun 29, 2015 | RCV000250695.3 | |
| Benign (1) |
criteria provided, single submitter
|
Dec 9, 2023 | RCV000473855.9 | |
| Benign (1) |
criteria provided, single submitter
|
Dec 5, 2021 | RCV002253228.1 |
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. |
|
|---|---|---|---|---|---|
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Benign
(Sep 13, 2013)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000166969.12
First in ClinVar: Jun 23, 2014 Last updated: Jul 05, 2015 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
|
Benign
(Dec 09, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Long QT syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000557177.7
First in ClinVar: Apr 17, 2017 Last updated: Feb 20, 2024 |
|
|
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Likely benign
(Jun 29, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000319798.7
First in ClinVar: Oct 02, 2016 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
|
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Benign
(Dec 05, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Cardiac arrhythmia, ankyrin-B-related
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV002524987.1
First in ClinVar: Jun 10, 2022 Last updated: Jun 10, 2022 |
|
Comment:
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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 rs145502481 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 08, 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.