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NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 19, 2020
Accession:
VCV000190542.3
Variation ID:
190542
Description:
single nucleotide variant
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NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)

Allele ID
188338
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113255879 (GRCh38) GRCh38 UCSC
4: 114177035 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_327t1:c.1135C>T
NC_000004.12:g.113255879C>T
NC_000004.11:g.114177035C>T
... more HGVS
Protein change
R358C, R379C, R365C, R375C, R350C, R394C
Other names
p.R379C:CGT>TGT
Canonical SPDI
NC_000004.12:113255878:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
1000 Genomes Project 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Exome Aggregation Consortium (ExAC) 0.00068
The Genome Aggregation Database (gnomAD) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00059
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA300770
dbSNP: rs143043717
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 16, 2018 RCV000170672.3
Benign 1 criteria provided, single submitter May 22, 2017 RCV000589070.1
Benign 1 criteria provided, single submitter Dec 4, 2017 RCV001151106.1
Likely benign 1 criteria provided, single submitter Nov 19, 2020 RCV001458133.1
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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
Likely benign
(Jan 16, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000223225.12
Submitted: (Mar 26, 2018)
Evidence details
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)
Benign
(May 22, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697723.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: The ANK2 c.1135C>T (p.Arg379Cys) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant … (more)
Benign
(Dec 04, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiac arrhythmia, ankyrin B-related
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001312209.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Nov 19, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV001661948.1
Submitted: (Jan 07, 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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Title Author Journal Year Link
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. Al-Shamsi A Orphanet journal of rare diseases 2016 PMID: 27391121

Text-mined citations for rs143043717...

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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 Jun 14, 2021