rs12067374
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
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 0.020 ( 567 hom., cov: 15)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.568
Publications
1 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=-0.93).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.055 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 0.0204 AC: 1919AN: 94192Hom.: 564 Cov.: 15 show subpopulations
GnomAD3 genomes
AF:
AC:
1919
AN:
94192
Hom.:
Cov.:
15
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 0.0204 AC: 1927AN: 94294Hom.: 567 Cov.: 15 AF XY: 0.0203 AC XY: 923AN XY: 45360 show subpopulations
GnomAD4 genome
AF:
AC:
1927
AN:
94294
Hom.:
Cov.:
15
AF XY:
AC XY:
923
AN XY:
45360
show subpopulations
African (AFR)
AF:
AC:
1833
AN:
32030
American (AMR)
AF:
AC:
60
AN:
8630
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
2110
East Asian (EAS)
AF:
AC:
6
AN:
2994
South Asian (SAS)
AF:
AC:
5
AN:
2562
European-Finnish (FIN)
AF:
AC:
0
AN:
5236
Middle Eastern (MID)
AF:
AC:
0
AN:
182
European-Non Finnish (NFE)
AF:
AC:
2
AN:
38648
Other (OTH)
AF:
AC:
21
AN:
1296
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.497
Heterozygous variant carriers
0
42
84
126
168
210
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
20
40
60
80
100
<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.:
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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