rs2070664
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005159.5(ACTC1):c.454+245G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 417,626 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 32)
Exomes 𝑓: 0.0000048 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
ACTC1
NM_005159.5 intron
NM_005159.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -3.56
Publications
0 publications found
Genes affected
ACTC1 (HGNC:143): (actin alpha cardiac muscle 1) Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]
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ACMG classification
Classification was made for transcript
Our verdict: Likely_benign. The variant received -2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes 0.00 AC: 0AN: 151934Hom.: 0 Cov.: 32
GnomAD3 genomes
AF:
AC:
0
AN:
151934
Hom.:
Cov.:
32
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.00000479 AC: 2AN: 417626Hom.: 0 AF XY: 0.00000454 AC XY: 1AN XY: 220348 show subpopulations
GnomAD4 exome
AF:
AC:
2
AN:
417626
Hom.:
AF XY:
AC XY:
1
AN XY:
220348
show subpopulations
African (AFR)
AF:
AC:
0
AN:
11772
American (AMR)
AF:
AC:
0
AN:
17486
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
12820
East Asian (EAS)
AF:
AC:
0
AN:
28530
South Asian (SAS)
AF:
AC:
2
AN:
42772
European-Finnish (FIN)
AF:
AC:
0
AN:
26258
Middle Eastern (MID)
AF:
AC:
0
AN:
1836
European-Non Finnish (NFE)
AF:
AC:
0
AN:
252068
Other (OTH)
AF:
AC:
0
AN:
24084
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.650
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome 0.00 AC: 0AN: 151934Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74194
GnomAD4 genome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
151934
Hom.:
Cov.:
32
AF XY:
AC XY:
0
AN XY:
74194
African (AFR)
AF:
AC:
0
AN:
41346
American (AMR)
AF:
AC:
0
AN:
15256
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3472
East Asian (EAS)
AF:
AC:
0
AN:
5174
South Asian (SAS)
AF:
AC:
0
AN:
4824
European-Finnish (FIN)
AF:
AC:
0
AN:
10548
Middle Eastern (MID)
AF:
AC:
0
AN:
316
European-Non Finnish (NFE)
AF:
AC:
0
AN:
67998
Other (OTH)
AF:
AC:
0
AN:
2088
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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