chr14-104797011-C-CT
Variant names:
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1
No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.84 ( 55334 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0410
Publications
3 publications found
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.917 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: 0.844 AC: 128309AN: 152016Hom.: 55291 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
128309
AN:
152016
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: 0.844 AC: 128417AN: 152134Hom.: 55334 Cov.: 0 AF XY: 0.837 AC XY: 62288AN XY: 74386 show subpopulations
GnomAD4 genome
AF:
AC:
128417
AN:
152134
Hom.:
Cov.:
0
AF XY:
AC XY:
62288
AN XY:
74386
show subpopulations
African (AFR)
AF:
AC:
32990
AN:
41474
American (AMR)
AF:
AC:
11976
AN:
15286
Ashkenazi Jewish (ASJ)
AF:
AC:
3075
AN:
3472
East Asian (EAS)
AF:
AC:
1734
AN:
5158
South Asian (SAS)
AF:
AC:
3196
AN:
4832
European-Finnish (FIN)
AF:
AC:
9847
AN:
10618
Middle Eastern (MID)
AF:
AC:
236
AN:
294
European-Non Finnish (NFE)
AF:
AC:
62721
AN:
67974
Other (OTH)
AF:
AC:
1788
AN:
2114
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.503
Heterozygous variant carriers
0
930
1860
2791
3721
4651
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
876
1752
2628
3504
4380
<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.:
Asia WGS
AF:
AC:
1789
AN:
3478
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
You must be logged in to view publications. This limit was set because tens of millions (!) of queries from AI bots are generated daily.