NM_001130004.2:c.*333G>T
Variant names:
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_001130004.2(ACTN1):c.*333G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 33)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
ACTN1
NM_001130004.2 3_prime_UTR
NM_001130004.2 3_prime_UTR
Scores
1
1
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.71
Publications
2 publications found
Genes affected
ACTN1 (HGNC:163): (actinin alpha 1) Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ACTN1 Gene-Disease associations (from GenCC):
- platelet-type bleeding disorder 15Inheritance: AD Classification: DEFINITIVE, STRONG, MODERATE Submitted by: ClinGen, Ambry Genetics, Labcorp Genetics (formerly Invitae)
- autosomal dominant macrothrombocytopeniaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001130004.2. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ACTN1 | TSL:1 MANE Select | c.*333G>T | 3_prime_UTR | Exon 22 of 22 | ENSP00000377941.4 | P12814-3 | |||
| ACTN1 | TSL:1 | c.*333G>T | 3_prime_UTR | Exon 21 of 21 | ENSP00000193403.6 | P12814-1 | |||
| ACTN1 | TSL:1 | n.4466G>T | non_coding_transcript_exon | Exon 10 of 10 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 50198Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 25516
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
50198
Hom.:
Cov.:
0
AF XY:
AC XY:
0
AN XY:
25516
African (AFR)
AF:
AC:
0
AN:
1996
American (AMR)
AF:
AC:
0
AN:
1836
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
2138
East Asian (EAS)
AF:
AC:
0
AN:
3822
South Asian (SAS)
AF:
AC:
0
AN:
924
European-Finnish (FIN)
AF:
AC:
0
AN:
2308
Middle Eastern (MID)
AF:
AC:
0
AN:
274
European-Non Finnish (NFE)
AF:
AC:
0
AN:
33504
Other (OTH)
AF:
AC:
0
AN:
3396
GnomAD4 genome
GnomAD4 genome
Cov.:
33
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Uncertain
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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