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NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 27, 2018
Accession:
VCV000652297.1
Variation ID:
652297
Description:
single nucleotide variant
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NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser)

Allele ID
643108
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 34793310 (GRCh38) GRCh38 UCSC
15: 35085511 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.9:g.35085511T>C
NC_000015.10:g.34793310T>C
NM_005159.5:c.389A>G NP_005150.1:p.Asn130Ser missense
... more HGVS
Protein change
N130S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 27, 2018 RCV000807828.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACTC1 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1 315
LOC101928174 - - - GRCh38 - 305

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 27, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1R
Familial hypertrophic cardiomyopathy 11
Atrial septal defect 5
Allele origin: germline
Invitae
Accession: SCV000947903.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces asparagine with serine at codon 130 of the ACTC1 protein (p.Asn130Ser). The asparagine residue is highly conserved and there is a ... (more)

Citations for this variant

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

Record last updated Jan 16, 2020