ENST00000512519.2:n.166-234G>C
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000512519.2(OSMR-DT):n.166-234G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.184 in 152,022 control chromosomes in the GnomAD database, including 2,638 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 0.18 ( 2638 hom., cov: 32)
Consequence
OSMR-DT
ENST00000512519.2 intron
ENST00000512519.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.365
Publications
6 publications found
Genes affected
Genome browser will be placed here
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=-0.83).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.192 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.184 AC: 27942AN: 151904Hom.: 2636 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
27942
AN:
151904
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: 0.184 AC: 27955AN: 152022Hom.: 2638 Cov.: 32 AF XY: 0.186 AC XY: 13818AN XY: 74300 show subpopulations
GnomAD4 genome
AF:
AC:
27955
AN:
152022
Hom.:
Cov.:
32
AF XY:
AC XY:
13818
AN XY:
74300
show subpopulations
African (AFR)
AF:
AC:
8121
AN:
41468
American (AMR)
AF:
AC:
2909
AN:
15282
Ashkenazi Jewish (ASJ)
AF:
AC:
609
AN:
3466
East Asian (EAS)
AF:
AC:
306
AN:
5168
South Asian (SAS)
AF:
AC:
921
AN:
4818
European-Finnish (FIN)
AF:
AC:
2446
AN:
10536
Middle Eastern (MID)
AF:
AC:
50
AN:
294
European-Non Finnish (NFE)
AF:
AC:
12072
AN:
67966
Other (OTH)
AF:
AC:
366
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.501
Heterozygous variant carriers
0
1156
2313
3469
4626
5782
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
300
600
900
1200
1500
<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:
447
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
You must be logged in to view publications. This limit was set because tens of millions (!) of queries from AI bots are generated daily.