6-32714531-C-A
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 0.649 in 151,884 control chromosomes in the GnomAD database, including 32,405 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 0.65 ( 32405 hom., cov: 32)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -3.62
Publications
33 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=-0.98).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.769 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: 0.649 AC: 98508AN: 151766Hom.: 32393 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
98508
AN:
151766
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: 0.649 AC: 98569AN: 151884Hom.: 32405 Cov.: 32 AF XY: 0.645 AC XY: 47849AN XY: 74188 show subpopulations
GnomAD4 genome
AF:
AC:
98569
AN:
151884
Hom.:
Cov.:
32
AF XY:
AC XY:
47849
AN XY:
74188
show subpopulations
African (AFR)
AF:
AC:
23802
AN:
41388
American (AMR)
AF:
AC:
11153
AN:
15276
Ashkenazi Jewish (ASJ)
AF:
AC:
2736
AN:
3472
East Asian (EAS)
AF:
AC:
3872
AN:
5180
South Asian (SAS)
AF:
AC:
3801
AN:
4814
European-Finnish (FIN)
AF:
AC:
5328
AN:
10492
Middle Eastern (MID)
AF:
AC:
226
AN:
294
European-Non Finnish (NFE)
AF:
AC:
45643
AN:
67952
Other (OTH)
AF:
AC:
1466
AN:
2110
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.504
Heterozygous variant carriers
0
1752
3505
5257
7010
8762
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
796
1592
2388
3184
3980
<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:
2746
AN:
3474
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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