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NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Nov 25, 2017
Accession:
VCV000538807.1
Variation ID:
538807
Description:
single nucleotide variant
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NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu)

Allele ID
529247
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 34794797 (GRCh38) GRCh38 UCSC
15: 35086998 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.34794797G>T
NC_000015.9:g.35086998G>T
NM_005159.5:c.12C>A NP_005150.1:p.Asp4Glu missense
... more HGVS
Protein change
D4E
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA391633489
dbSNP: rs768526036
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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 Nov 25, 2017 RCV000648298.1
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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
(Nov 25, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1R
Familial hypertrophic cardiomyopathy 11
Atrial septal defect 5
Allele origin: germline
Invitae
Accession: SCV000770112.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces aspartic acid with glutamic acid at codon 4 of the ACTC1 protein (p.Asp4Glu). The aspartic acid residue is highly conserved and ... (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 Dec 27, 2019