8-75663820-T-G

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 0.0651 in 152,252 control chromosomes in the GnomAD database, including 358 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 0.065 ( 358 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.224

Publications

3 publications found
Variant links:

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ACMG classification

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

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.79).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.0908 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:
0.0651
AC:
9902
AN:
152134
Hom.:
360
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0671
Gnomad AMI
AF:
0.0351
Gnomad AMR
AF:
0.0947
Gnomad ASJ
AF:
0.142
Gnomad EAS
AF:
0.0859
Gnomad SAS
AF:
0.0356
Gnomad FIN
AF:
0.0276
Gnomad MID
AF:
0.101
Gnomad NFE
AF:
0.0590
Gnomad OTH
AF:
0.0942
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0651
AC:
9910
AN:
152252
Hom.:
358
Cov.:
32
AF XY:
0.0642
AC XY:
4782
AN XY:
74458
show subpopulations
African (AFR)
AF:
0.0670
AC:
2784
AN:
41536
American (AMR)
AF:
0.0948
AC:
1450
AN:
15292
Ashkenazi Jewish (ASJ)
AF:
0.142
AC:
493
AN:
3472
East Asian (EAS)
AF:
0.0863
AC:
447
AN:
5180
South Asian (SAS)
AF:
0.0356
AC:
172
AN:
4830
European-Finnish (FIN)
AF:
0.0276
AC:
293
AN:
10622
Middle Eastern (MID)
AF:
0.109
AC:
32
AN:
294
European-Non Finnish (NFE)
AF:
0.0590
AC:
4010
AN:
68000
Other (OTH)
AF:
0.0932
AC:
197
AN:
2114
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.501
Heterozygous variant carriers
0
479
957
1436
1914
2393
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
116
232
348
464
580
<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:
0.0540
Hom.:
135
Bravo
AF:
0.0745
Asia WGS
AF:
0.0580
AC:
201
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.79
CADD
Benign
6.6
DANN
Benign
0.56
PhyloP100
0.22

Splicing

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

Publications

Other links and lift over

dbSNP: rs10504595; hg19: chr8-76576055; API