rs2233260
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000432.4(MYL2):c.353+51C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.23 in 1,613,166 control chromosomes in the GnomAD database, including 45,790 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.21 ( 3694 hom., cov: 33)
Exomes 𝑓: 0.23 ( 42096 hom. )
Consequence
MYL2
NM_000432.4 intron
NM_000432.4 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.211
Genes affected
MYL2 (HGNC:7583): (myosin light chain 2) This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded protein is involved in cardiac myosin cycling kinetics, torsion and function in adults. Mutations in this gene are associated with hypertrophic cardiomyopathy 10 and infant-onset myopathy. [provided by RefSeq, May 2022]
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ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BP6
Variant 12-110913195-G-A is Benign according to our data. Variant chr12-110913195-G-A is described in ClinVar as [Benign]. Clinvar id is 31774.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr12-110913195-G-A is described in Lovd as [Benign].
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.272 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYL2 | NM_000432.4 | c.353+51C>T | intron_variant | Intron 5 of 6 | ENST00000228841.15 | NP_000423.2 | ||
MYL2 | NM_001406745.1 | c.311+51C>T | intron_variant | Intron 4 of 5 | NP_001393674.1 | |||
MYL2 | NM_001406916.1 | c.296+51C>T | intron_variant | Intron 5 of 6 | NP_001393845.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.212 AC: 32017AN: 151328Hom.: 3690 Cov.: 33 show subpopulations
GnomAD3 genomes
AF:
AC:
32017
AN:
151328
Hom.:
Cov.:
33
Gnomad AFR
AF:
Gnomad AMI
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Gnomad ASJ
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Gnomad EAS
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Gnomad SAS
AF:
Gnomad FIN
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Gnomad MID
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Gnomad NFE
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Gnomad OTH
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GnomAD2 exomes AF: 0.210 AC: 52206AN: 248922 AF XY: 0.205 show subpopulations
GnomAD2 exomes
AF:
AC:
52206
AN:
248922
AF XY:
Gnomad AFR exome
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Gnomad AMR exome
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Gnomad ASJ exome
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Gnomad EAS exome
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Gnomad FIN exome
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Gnomad NFE exome
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Gnomad OTH exome
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GnomAD4 exome AF: 0.232 AC: 338628AN: 1461718Hom.: 42096 Cov.: 38 AF XY: 0.227 AC XY: 164966AN XY: 727160 show subpopulations
GnomAD4 exome
AF:
AC:
338628
AN:
1461718
Hom.:
Cov.:
38
AF XY:
AC XY:
164966
AN XY:
727160
show subpopulations
African (AFR)
AF:
AC:
4929
AN:
33480
American (AMR)
AF:
AC:
14397
AN:
44714
Ashkenazi Jewish (ASJ)
AF:
AC:
3079
AN:
26134
East Asian (EAS)
AF:
AC:
77
AN:
39700
South Asian (SAS)
AF:
AC:
10842
AN:
86246
European-Finnish (FIN)
AF:
AC:
14151
AN:
53420
Middle Eastern (MID)
AF:
AC:
902
AN:
5768
European-Non Finnish (NFE)
AF:
AC:
277000
AN:
1111862
Other (OTH)
AF:
AC:
13251
AN:
60394
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.494
Heterozygous variant carriers
0
16200
32400
48600
64800
81000
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome AF: 0.211 AC: 32023AN: 151448Hom.: 3694 Cov.: 33 AF XY: 0.210 AC XY: 15570AN XY: 74050 show subpopulations
GnomAD4 genome
AF:
AC:
32023
AN:
151448
Hom.:
Cov.:
33
AF XY:
AC XY:
15570
AN XY:
74050
show subpopulations
African (AFR)
AF:
AC:
6428
AN:
40788
American (AMR)
AF:
AC:
4268
AN:
15286
Ashkenazi Jewish (ASJ)
AF:
AC:
380
AN:
3464
East Asian (EAS)
AF:
AC:
23
AN:
5186
South Asian (SAS)
AF:
AC:
534
AN:
4824
European-Finnish (FIN)
AF:
AC:
2911
AN:
10592
Middle Eastern (MID)
AF:
AC:
62
AN:
294
European-Non Finnish (NFE)
AF:
AC:
16681
AN:
67992
Other (OTH)
AF:
AC:
445
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.497
Heterozygous variant carriers
0
1295
2590
3884
5179
6474
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
Bravo
AF:
ClinVar
Significance: Benign
Submissions summary: Benign:2Other:1
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2Other:1
-
Breakthrough Genomics, Breakthrough Genomics
Significance:Benign
Review Status:criteria provided, single submitter
Collection Method:not provided
- -
Mar 26, 2012
Leiden Muscular Dystrophy (MYL2)
Significance:not provided
Review Status:no classification provided
Collection Method:curation
- -
Mar 03, 2015
GeneDx
Significance:Benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
- -
Computational 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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