rs3759916
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 0.962 in 152,382 control chromosomes in the GnomAD database, including 70,963 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 0.96 ( 70963 hom., cov: 35)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.114
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.76).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.989 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: 0.962 AC: 146549AN: 152264Hom.: 70916 Cov.: 35 show subpopulations
GnomAD3 genomes
AF:
AC:
146549
AN:
152264
Hom.:
Cov.:
35
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: 0.962 AC: 146655AN: 152382Hom.: 70963 Cov.: 35 AF XY: 0.958 AC XY: 71395AN XY: 74514 show subpopulations
GnomAD4 genome
AF:
AC:
146655
AN:
152382
Hom.:
Cov.:
35
AF XY:
AC XY:
71395
AN XY:
74514
Gnomad4 AFR
AF:
AC:
0.969492
AN:
0.969492
Gnomad4 AMR
AF:
AC:
0.882772
AN:
0.882772
Gnomad4 ASJ
AF:
AC:
0.995392
AN:
0.995392
Gnomad4 EAS
AF:
AC:
0.651662
AN:
0.651662
Gnomad4 SAS
AF:
AC:
0.928808
AN:
0.928808
Gnomad4 FIN
AF:
AC:
0.994731
AN:
0.994731
Gnomad4 NFE
AF:
AC:
0.994812
AN:
0.994812
Gnomad4 OTH
AF:
AC:
0.959357
AN:
0.959357
Heterozygous variant carriers
0
246
492
739
985
1231
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
908
1816
2724
3632
4540
<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:
2798
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at