rs1800587
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
The variant allele was found at a frequency of 0.317 in 152,114 control chromosomes in the GnomAD database, including 7,960 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 0.32 ( 7960 hom., cov: 33)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.170
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.387 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 |
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Frequencies
GnomAD3 genomes AF: 0.317 AC: 48202AN: 151996Hom.: 7944 Cov.: 33 show subpopulations
GnomAD3 genomes
AF:
AC:
48202
AN:
151996
Hom.:
Cov.:
33
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: 0.317 AC: 48262AN: 152114Hom.: 7960 Cov.: 33 AF XY: 0.317 AC XY: 23570AN XY: 74352 show subpopulations
GnomAD4 genome
AF:
AC:
48262
AN:
152114
Hom.:
Cov.:
33
AF XY:
AC XY:
23570
AN XY:
74352
Gnomad4 AFR
AF:
AC:
0.391974
AN:
0.391974
Gnomad4 AMR
AF:
AC:
0.291285
AN:
0.291285
Gnomad4 ASJ
AF:
AC:
0.343228
AN:
0.343228
Gnomad4 EAS
AF:
AC:
0.0787341
AN:
0.0787341
Gnomad4 SAS
AF:
AC:
0.290924
AN:
0.290924
Gnomad4 FIN
AF:
AC:
0.31563
AN:
0.31563
Gnomad4 NFE
AF:
AC:
0.295398
AN:
0.295398
Gnomad4 OTH
AF:
AC:
0.306345
AN:
0.306345
Heterozygous variant carriers
0
1681
3361
5042
6722
8403
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
474
948
1422
1896
2370
<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:
741
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