9-107391866-A-G
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The variant allele was found at a frequency of 0.0854 in 152,254 control chromosomes in the GnomAD database, including 1,377 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 0.085 ( 1377 hom., cov: 32)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.335
Publications
1 publications found
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.243 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.0852 AC: 12965AN: 152136Hom.: 1368 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
12965
AN:
152136
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: 0.0854 AC: 13006AN: 152254Hom.: 1377 Cov.: 32 AF XY: 0.0859 AC XY: 6394AN XY: 74442 show subpopulations
GnomAD4 genome
AF:
AC:
13006
AN:
152254
Hom.:
Cov.:
32
AF XY:
AC XY:
6394
AN XY:
74442
show subpopulations
African (AFR)
AF:
AC:
10242
AN:
41502
American (AMR)
AF:
AC:
705
AN:
15290
Ashkenazi Jewish (ASJ)
AF:
AC:
135
AN:
3470
East Asian (EAS)
AF:
AC:
275
AN:
5190
South Asian (SAS)
AF:
AC:
676
AN:
4824
European-Finnish (FIN)
AF:
AC:
88
AN:
10620
Middle Eastern (MID)
AF:
AC:
23
AN:
294
European-Non Finnish (NFE)
AF:
AC:
720
AN:
68036
Other (OTH)
AF:
AC:
142
AN:
2116
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.501
Heterozygous variant carriers
0
521
1042
1563
2084
2605
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
134
268
402
536
670
<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:
366
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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