8-107838591-T-G

Variant names:

• chr8-107838591-T-G
• rs10109988

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.736 in 152,094 control chromosomes in the GnomAD database, including 41,363 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 0.74 (41363 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0920
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.795 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.736 AC: 111845 AN: 151976 Hom.: 41337 Cov.: 33

Gnomad AFR AF: 0.802

Gnomad AMI AF: 0.683

Gnomad AMR AF: 0.684

Gnomad ASJ AF: 0.689

Gnomad EAS AF: 0.668

Gnomad SAS AF: 0.677

Gnomad FIN AF: 0.703

Gnomad MID AF: 0.737

Gnomad NFE AF: 0.725

Gnomad OTH AF: 0.734

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.736 AC: 111923 AN: 152094 Hom.: 41363 Cov.: 33 AF XY: 0.732 AC XY: 54414 AN XY: 74330

African (AFR) AF: 0.802 AC: 33288 AN: 41496

American (AMR) AF: 0.683 AC: 10442 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.689 AC: 2391 AN: 3472

East Asian (EAS) AF: 0.668 AC: 3445 AN: 5154

South Asian (SAS) AF: 0.678 AC: 3267 AN: 4822

European-Finnish (FIN) AF: 0.703 AC: 7437 AN: 10578

Middle Eastern (MID) AF: 0.738 AC: 217 AN: 294

European-Non Finnish (NFE) AF: 0.725 AC: 49277 AN: 67980

Other (OTH) AF: 0.730 AC: 1540 AN: 2110

Alfa AF: 0.730 Hom.: 166928

Bravo AF: 0.741

Asia WGS AF: 0.677 AC: 2350 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	6.8
DANN	Benign	0.84
PhyloP100		-0.092

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs10109988;

hg19: chr8-108850819;