rs112894708
Variant names:
Your query was ambiguous. Multiple possible variants found:
- chr2-210298339-TACACACACACACAC-T
- chr2-210298339-TACACACACACACAC-TAC
- chr2-210298339-TACACACACACACAC-TACAC
- chr2-210298339-TACACACACACACAC-TACACAC
- chr2-210298339-TACACACACACACAC-TACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACACACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACACACACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACACACACACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACACACACACACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACACACACACACACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACACACACACACACACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACACACACACACACACACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACACACACACACACACACACACACAC
- chr2-210298339-TACACACACACACAC-TACACACACACACACACACACACACACACACACAC
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_079420.3(MYL1):c.304+67_304+80delGTGTGTGTGTGTGT variant causes a intron change involving the alteration of a non-conserved nucleotide. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000068 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
MYL1
NM_079420.3 intron
NM_079420.3 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.20
Publications
0 publications found
Genes affected
MYL1 (HGNC:7582): (myosin light chain 1) Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
MYL1 Gene-Disease associations (from GenCC):
- congenital myopathy with reduced type 2 muscle fibersInheritance: AR, Unknown Classification: SUPPORTIVE, LIMITED Submitted by: G2P, Orphanet, Ambry Genetics, Labcorp Genetics (formerly Invitae)
- congenital myopathyInheritance: AR Classification: LIMITED Submitted by: ClinGen
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_079420.3. You can select a different transcript below to see updated ACMG assignments.
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| MYL1 | TSL:1 MANE Select | c.304+67_304+80delGTGTGTGTGTGTGT | intron | N/A | ENSP00000307280.4 | P05976-1 | |||
| MYL1 | TSL:1 | c.172+67_172+80delGTGTGTGTGTGTGT | intron | N/A | ENSP00000343321.4 | P05976-2 | |||
| MYL1 | c.268+67_268+80delGTGTGTGTGTGTGT | intron | N/A | ENSP00000627437.1 |
Frequencies
GnomAD3 genomes 0.00000679 AC: 1AN: 147314Hom.: 0 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
1
AN:
147314
Hom.:
Cov.:
0
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 Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1040404Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 530350
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
1040404
Hom.:
AF XY:
AC XY:
0
AN XY:
530350
African (AFR)
AF:
AC:
0
AN:
26302
American (AMR)
AF:
AC:
0
AN:
42218
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
21212
East Asian (EAS)
AF:
AC:
0
AN:
35754
South Asian (SAS)
AF:
AC:
0
AN:
71676
European-Finnish (FIN)
AF:
AC:
0
AN:
44692
Middle Eastern (MID)
AF:
AC:
0
AN:
3954
European-Non Finnish (NFE)
AF:
AC:
0
AN:
748712
Other (OTH)
AF:
AC:
0
AN:
45884
GnomAD4 genome 0.00000679 AC: 1AN: 147314Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 71508 show subpopulations
GnomAD4 genome
AF:
AC:
1
AN:
147314
Hom.:
Cov.:
0
AF XY:
AC XY:
0
AN XY:
71508
show subpopulations
African (AFR)
AF:
AC:
0
AN:
39748
American (AMR)
AF:
AC:
0
AN:
14712
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3430
East Asian (EAS)
AF:
AC:
0
AN:
4894
South Asian (SAS)
AF:
AC:
0
AN:
4522
European-Finnish (FIN)
AF:
AC:
0
AN:
9854
Middle Eastern (MID)
AF:
AC:
0
AN:
310
European-Non Finnish (NFE)
AF:
AC:
1
AN:
66924
Other (OTH)
AF:
AC:
0
AN:
2024
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.525
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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