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NM_014391.2(ANKRD1):c.108T>C (p.Ala36=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000379748.5
Variation ID:
379748
Description:
single nucleotide variant
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NM_014391.2(ANKRD1):c.108T>C (p.Ala36=)

Allele ID
371639
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 90920268 (GRCh38) GRCh38 UCSC
10: 92680025 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.92680025A>G
NC_000010.11:g.90920268A>G
NM_014391.2:c.108T>C NP_055206.2:p.Ala36= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:90920267:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00017
Trans-Omics for Precision Medicine (TOPMed) 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00014
The Genome Aggregation Database (gnomAD) 0.00006
Links
ClinGen: CA5598839
dbSNP: rs145211719
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jul 2, 2015 RCV000442234.1
Likely benign 1 criteria provided, single submitter Nov 29, 2016 RCV000619438.1
Likely benign 1 criteria provided, single submitter Sep 18, 2017 RCV001105940.1
Benign 1 criteria provided, single submitter Dec 1, 2017 RCV001170405.1
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV001519608.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANKRD1 - - GRCh38
GRCh37
228 240

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 02, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000517101.4
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)
Likely benign
(Sep 18, 2017)
criteria provided, single submitter
Method: clinical testing
Primary dilated cardiomyopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001262964.1
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)
Benign
(Dec 01, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001332982.1
Submitted: (Mar 03, 2020)
Evidence details
Likely benign
(Nov 29, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735627.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
ANKRD1-related dilated cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001728497.1
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
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. Meyer T European journal of human genetics : EJHG 2013 PMID: 22892539

Text-mined citations for rs145211719...

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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 29, 2021