chr5-38845303-CA-C
Variant names:
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1
The ENST00000512519.2(OSMR-DT):n.165+364delT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.029 ( 180 hom., cov: 0)
Consequence
OSMR-DT
ENST00000512519.2 intron
ENST00000512519.2 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.41
Publications
1 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -8 ACMG points.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.36 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0293 AC: 2627AN: 89640Hom.: 181 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
2627
AN:
89640
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:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0292 AC: 2616AN: 89620Hom.: 180 Cov.: 0 AF XY: 0.0313 AC XY: 1287AN XY: 41142 show subpopulations
GnomAD4 genome
AF:
AC:
2616
AN:
89620
Hom.:
Cov.:
0
AF XY:
AC XY:
1287
AN XY:
41142
show subpopulations
African (AFR)
AF:
AC:
146
AN:
21958
American (AMR)
AF:
AC:
153
AN:
7544
Ashkenazi Jewish (ASJ)
AF:
AC:
31
AN:
2542
East Asian (EAS)
AF:
AC:
1318
AN:
3496
South Asian (SAS)
AF:
AC:
84
AN:
2412
European-Finnish (FIN)
AF:
AC:
29
AN:
2702
Middle Eastern (MID)
AF:
AC:
0
AN:
156
European-Non Finnish (NFE)
AF:
AC:
794
AN:
46966
Other (OTH)
AF:
AC:
55
AN:
1166
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.448
Heterozygous variant carriers
0
80
161
241
322
402
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
40
80
120
160
200
<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.:
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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