rs7805828
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 ENST00000650428.1(STEAP1B):n.46+8625C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.389 in 151,974 control chromosomes in the GnomAD database, including 11,593 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 0.39 ( 11593 hom., cov: 32)
Consequence
STEAP1B
ENST00000650428.1 intron
ENST00000650428.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.390
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.422 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 |
---|---|---|---|---|---|---|---|---|---|---|
STEAP1B | ENST00000650428.1 | n.46+8625C>T | intron_variant | Intron 1 of 2 |
Frequencies
GnomAD3 genomes AF: 0.388 AC: 58994AN: 151856Hom.: 11581 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
58994
AN:
151856
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: 0.389 AC: 59047AN: 151974Hom.: 11593 Cov.: 32 AF XY: 0.383 AC XY: 28416AN XY: 74272 show subpopulations
GnomAD4 genome
AF:
AC:
59047
AN:
151974
Hom.:
Cov.:
32
AF XY:
AC XY:
28416
AN XY:
74272
Gnomad4 AFR
AF:
AC:
0.382435
AN:
0.382435
Gnomad4 AMR
AF:
AC:
0.43105
AN:
0.43105
Gnomad4 ASJ
AF:
AC:
0.392734
AN:
0.392734
Gnomad4 EAS
AF:
AC:
0.2385
AN:
0.2385
Gnomad4 SAS
AF:
AC:
0.312007
AN:
0.312007
Gnomad4 FIN
AF:
AC:
0.283425
AN:
0.283425
Gnomad4 NFE
AF:
AC:
0.415347
AN:
0.415347
Gnomad4 OTH
AF:
AC:
0.409091
AN:
0.409091
Heterozygous variant carriers
0
1851
3702
5552
7403
9254
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
554
1108
1662
2216
2770
<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:
1070
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