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NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Jul 8, 2019
Accession:
VCV000809661.7
Variation ID:
809661
Description:
single nucleotide variant
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NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter)

Allele ID
795510
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113330289 (GRCh38) GRCh38 UCSC
4: 114251445 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.114251445C>T
NC_000004.12:g.113330289C>T
NM_001148.6:c.2944C>T MANE Select NP_001139.3:p.Arg982Ter nonsense
... more HGVS
Protein change
R1008*, R887*, R915*, R920*, R948*, R953*, R961*, R994*, R940*, R968*, R973*, R911*, R928*, R986*, R996*, R997*, R191*, R203*, R949*, R960*, R965*, R972*, R981*, R982*
Other names
-
Canonical SPDI
NC_000004.12:113330288:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1588354762
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jul 8, 2019 RCV000998267.2

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANK2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1574 1590

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 08, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV001448922.1
Submitted: (Sep 02, 2020)
Evidence details
Likely pathogenic
(Mar 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001154238.6
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1588354762...

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These 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 Jul 10, 2021