8-34392333-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The variant allele was found at a frequency of 0.49 in 151,874 control chromosomes in the GnomAD database, including 21,253 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 0.49 ( 21253 hom., cov: 31)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.177
Variant links:

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ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.626 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:
0.490
AC:
74352
AN:
151756
Hom.:
21258
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.173
Gnomad AMI
AF:
0.622
Gnomad AMR
AF:
0.532
Gnomad ASJ
AF:
0.656
Gnomad EAS
AF:
0.570
Gnomad SAS
AF:
0.494
Gnomad FIN
AF:
0.646
Gnomad MID
AF:
0.573
Gnomad NFE
AF:
0.631
Gnomad OTH
AF:
0.508
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.490
AC:
74351
AN:
151874
Hom.:
21253
Cov.:
31
AF XY:
0.491
AC XY:
36464
AN XY:
74208
show subpopulations
Gnomad4 AFR
AF:
0.173
Gnomad4 AMR
AF:
0.532
Gnomad4 ASJ
AF:
0.656
Gnomad4 EAS
AF:
0.570
Gnomad4 SAS
AF:
0.493
Gnomad4 FIN
AF:
0.646
Gnomad4 NFE
AF:
0.631
Gnomad4 OTH
AF:
0.506
Alfa
AF:
0.558
Hom.:
4395
Bravo
AF:
0.471
Asia WGS
AF:
0.506
AC:
1758
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.83
CADD
Benign
5.9
DANN
Benign
0.63

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs2719307; hg19: chr8-34249851; API