rs1984620
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000577743.2(MYHAS):n.95+5118G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.356 in 152,006 control chromosomes in the GnomAD database, including 10,433 homozygotes. 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 0.36 ( 10433 hom., cov: 32)
Consequence
MYHAS
ENST00000577743.2 intron
ENST00000577743.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.474
Publications
3 publications found
Genes affected
MYHAS (HGNC:50609): (myosin heavy chain gene cluster antisense RNA) Predicted to enable primary miRNA binding activity. Predicted to be involved in response to muscle activity and skeletal muscle fiber development. Predicted to act upstream of or within with a positive effect on gene expression. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.92).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.443 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.356 AC: 54102AN: 151888Hom.: 10436 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
54102
AN:
151888
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:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.356 AC: 54121AN: 152006Hom.: 10433 Cov.: 32 AF XY: 0.351 AC XY: 26050AN XY: 74306 show subpopulations
GnomAD4 genome
AF:
AC:
54121
AN:
152006
Hom.:
Cov.:
32
AF XY:
AC XY:
26050
AN XY:
74306
show subpopulations
African (AFR)
AF:
AC:
9432
AN:
41440
American (AMR)
AF:
AC:
4740
AN:
15266
Ashkenazi Jewish (ASJ)
AF:
AC:
1283
AN:
3470
East Asian (EAS)
AF:
AC:
1138
AN:
5172
South Asian (SAS)
AF:
AC:
1162
AN:
4822
European-Finnish (FIN)
AF:
AC:
4675
AN:
10568
Middle Eastern (MID)
AF:
AC:
99
AN:
294
European-Non Finnish (NFE)
AF:
AC:
30380
AN:
67950
Other (OTH)
AF:
AC:
734
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.502
Heterozygous variant carriers
0
1713
3426
5139
6852
8565
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
532
1064
1596
2128
2660
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
833
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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