chr8-26663044-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 0.0924 in 152,158 control chromosomes in the GnomAD database, including 763 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 0.092 ( 763 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.281
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=-0.93).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.117 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:
0.0925
AC:
14061
AN:
152040
Hom.:
765
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.110
Gnomad AMI
AF:
0.0912
Gnomad AMR
AF:
0.0862
Gnomad ASJ
AF:
0.116
Gnomad EAS
AF:
0.00368
Gnomad SAS
AF:
0.125
Gnomad FIN
AF:
0.0402
Gnomad MID
AF:
0.133
Gnomad NFE
AF:
0.0940
Gnomad OTH
AF:
0.106
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0924
AC:
14061
AN:
152158
Hom.:
763
Cov.:
32
AF XY:
0.0918
AC XY:
6826
AN XY:
74368
show subpopulations
Gnomad4 AFR
AF:
0.110
Gnomad4 AMR
AF:
0.0861
Gnomad4 ASJ
AF:
0.116
Gnomad4 EAS
AF:
0.00388
Gnomad4 SAS
AF:
0.125
Gnomad4 FIN
AF:
0.0402
Gnomad4 NFE
AF:
0.0940
Gnomad4 OTH
AF:
0.105
Alfa
AF:
0.0903
Hom.:
129
Bravo
AF:
0.0946
Asia WGS
AF:
0.0600
AC:
210
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.93
CADD
Benign
2.3
DANN
Benign
0.21

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: rs12155555; hg19: chr8-26520560; API