rs10736086

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 0.447 in 152,054 control chromosomes in the GnomAD database, including 16,687 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 0.45 ( 16687 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.00300

Publications

2 publications found
Variant links:

Genome browser will be placed here

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.589 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:
0.447
AC:
67901
AN:
151936
Hom.:
16680
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.233
Gnomad AMI
AF:
0.522
Gnomad AMR
AF:
0.599
Gnomad ASJ
AF:
0.501
Gnomad EAS
AF:
0.545
Gnomad SAS
AF:
0.363
Gnomad FIN
AF:
0.550
Gnomad MID
AF:
0.443
Gnomad NFE
AF:
0.521
Gnomad OTH
AF:
0.471
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.447
AC:
67915
AN:
152054
Hom.:
16687
Cov.:
32
AF XY:
0.449
AC XY:
33392
AN XY:
74326
show subpopulations
African (AFR)
AF:
0.232
AC:
9639
AN:
41496
American (AMR)
AF:
0.600
AC:
9158
AN:
15272
Ashkenazi Jewish (ASJ)
AF:
0.501
AC:
1738
AN:
3466
East Asian (EAS)
AF:
0.545
AC:
2813
AN:
5162
South Asian (SAS)
AF:
0.362
AC:
1745
AN:
4818
European-Finnish (FIN)
AF:
0.550
AC:
5806
AN:
10562
Middle Eastern (MID)
AF:
0.445
AC:
130
AN:
292
European-Non Finnish (NFE)
AF:
0.521
AC:
35426
AN:
67966
Other (OTH)
AF:
0.467
AC:
986
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.500
Heterozygous variant carriers
0
1778
3557
5335
7114
8892
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
608
1216
1824
2432
3040
<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:
0.464
Hom.:
5029
Bravo
AF:
0.448
Asia WGS
AF:
0.425
AC:
1479
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.91
CADD
Benign
5.9
DANN
Benign
0.57
PhyloP100
-0.0030

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

Other links and lift over

dbSNP: rs10736086; hg19: chr10-96441650; API