rs5968255
Variant names:
Your query was ambiguous. Multiple possible variants found:
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 0.127 in 111,247 control chromosomes in the GnomAD database, including 873 homozygotes. There are 4,257 hemizygotes in GnomAD. 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 0.13 ( 873 hom., 4257 hem., cov: 22)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0780
Publications
3 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=-0.91).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.513 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: 0.127 AC: 14155AN: 111188Hom.: 872 Cov.: 22 show subpopulations
GnomAD3 genomes
AF:
AC:
14155
AN:
111188
Hom.:
Cov.:
22
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: 0.127 AC: 14160AN: 111247Hom.: 873 Cov.: 22 AF XY: 0.127 AC XY: 4257AN XY: 33485 show subpopulations
GnomAD4 genome
AF:
AC:
14160
AN:
111247
Hom.:
Cov.:
22
AF XY:
AC XY:
4257
AN XY:
33485
show subpopulations
African (AFR)
AF:
AC:
2647
AN:
30728
American (AMR)
AF:
AC:
1425
AN:
10456
Ashkenazi Jewish (ASJ)
AF:
AC:
354
AN:
2635
East Asian (EAS)
AF:
AC:
1845
AN:
3458
South Asian (SAS)
AF:
AC:
700
AN:
2630
European-Finnish (FIN)
AF:
AC:
839
AN:
5931
Middle Eastern (MID)
AF:
AC:
16
AN:
217
European-Non Finnish (NFE)
AF:
AC:
6092
AN:
52987
Other (OTH)
AF:
AC:
176
AN:
1522
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.502
Heterozygous variant carriers
0
419
838
1256
1675
2094
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
178
356
534
712
890
<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:
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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