8-91931188-T-C

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 0.583 in 151,948 control chromosomes in the GnomAD database, including 26,655 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 0.58 ( 26655 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.62
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=-0.82).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.837 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:
0.582
AC:
88441
AN:
151832
Hom.:
26625
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.666
Gnomad AMI
AF:
0.499
Gnomad AMR
AF:
0.672
Gnomad ASJ
AF:
0.640
Gnomad EAS
AF:
0.859
Gnomad SAS
AF:
0.790
Gnomad FIN
AF:
0.472
Gnomad MID
AF:
0.644
Gnomad NFE
AF:
0.490
Gnomad OTH
AF:
0.603
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.583
AC:
88526
AN:
151948
Hom.:
26655
Cov.:
32
AF XY:
0.591
AC XY:
43894
AN XY:
74292
show subpopulations
Gnomad4 AFR
AF:
0.666
Gnomad4 AMR
AF:
0.672
Gnomad4 ASJ
AF:
0.640
Gnomad4 EAS
AF:
0.858
Gnomad4 SAS
AF:
0.789
Gnomad4 FIN
AF:
0.472
Gnomad4 NFE
AF:
0.490
Gnomad4 OTH
AF:
0.609
Alfa
AF:
0.370
Hom.:
911
Bravo
AF:
0.597
Asia WGS
AF:
0.813
AC:
2771
AN:
3414

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.82
CADD
Benign
8.4
DANN
Benign
0.81

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: rs10504913; hg19: chr8-92943416; API