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NM_001103.3(ACTN2):c.1459T>C (p.Cys487Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 27, 2020)
Last evaluated:
Jun 25, 2020
Accession:
VCV000694348.3
Variation ID:
694348
Description:
single nucleotide variant
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NM_001103.3(ACTN2):c.1459T>C (p.Cys487Arg)

Allele ID
682242
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q43
Genomic location
1: 236747719 (GRCh38) GRCh38 UCSC
1: 236911019 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.236911019T>C
NC_000001.11:g.236747719T>C
NM_001103.3:c.1459T>C NP_001094.1:p.Cys487Arg missense
... more HGVS
Protein change
C487R, C279R
Other names
-
Canonical SPDI
NC_000001.11:236747718:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 102573.0010
dbSNP: rs1572140109
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Jun 25, 2020 RCV000855694.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACTN2 - - GRCh38
GRCh37
800 854

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 25, 2020)
criteria provided, single submitter
Method: curation
Myopathy, distal, 6, adult-onset, autosomal dominant
Allele origin: unknown
SIB Swiss Institute of Bioinformatics
Accession: SCV001426211.1
Submitted: (Jul 27, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant is interpreted as likely pathogenic for Myopathy, distal, 6, adult onset, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or … (more)
Pathogenic
(Nov 11, 2019)
no assertion criteria provided
Method: literature only
MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT
Allele origin: germline
OMIM
Accession: SCV000998843.2
Submitted: (Nov 08, 2019)
Evidence details
Publications
PubMed (1)

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
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. Savarese M Annals of neurology 2019 PMID: 30900782

Text-mined citations for rs1572140109...

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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 Apr 08, 2021