12-71935326-T-C
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 0.401 in 151,978 control chromosomes in the GnomAD database, including 13,845 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 0.40 ( 13845 hom., cov: 31)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.63
Publications
12 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=-0.92).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.485 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: 0.401 AC: 60866AN: 151860Hom.: 13842 Cov.: 31 show subpopulations
GnomAD3 genomes
AF:
AC:
60866
AN:
151860
Hom.:
Cov.:
31
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: 0.401 AC: 60881AN: 151978Hom.: 13845 Cov.: 31 AF XY: 0.405 AC XY: 30115AN XY: 74284 show subpopulations
GnomAD4 genome
AF:
AC:
60881
AN:
151978
Hom.:
Cov.:
31
AF XY:
AC XY:
30115
AN XY:
74284
show subpopulations
African (AFR)
AF:
AC:
7210
AN:
41460
American (AMR)
AF:
AC:
7391
AN:
15278
Ashkenazi Jewish (ASJ)
AF:
AC:
1696
AN:
3470
East Asian (EAS)
AF:
AC:
2175
AN:
5148
South Asian (SAS)
AF:
AC:
1925
AN:
4806
European-Finnish (FIN)
AF:
AC:
5682
AN:
10558
Middle Eastern (MID)
AF:
AC:
144
AN:
294
European-Non Finnish (NFE)
AF:
AC:
33274
AN:
67942
Other (OTH)
AF:
AC:
933
AN:
2116
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.502
Heterozygous variant carriers
0
1688
3376
5065
6753
8441
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
1369
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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