8-107592042-G-T

Variant names:

• chr8-107592042-G-T
• rs166843

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 0.277 in 151,562 control chromosomes in the GnomAD database, including 5,992 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 0.28 (5992 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0640
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.344 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: 0.277 AC: 41916 AN: 151444 Hom.: 5987 Cov.: 31

Gnomad AFR AF: 0.266

Gnomad AMI AF: 0.166

Gnomad AMR AF: 0.352

Gnomad ASJ AF: 0.196

Gnomad EAS AF: 0.349

Gnomad SAS AF: 0.175

Gnomad FIN AF: 0.271

Gnomad MID AF: 0.185

Gnomad NFE AF: 0.276

Gnomad OTH AF: 0.246

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

GnomAD4 genome AF: 0.277 AC: 41936 AN: 151562 Hom.: 5992 Cov.: 31 AF XY: 0.276 AC XY: 20442 AN XY: 74030

African (AFR) AF: 0.266 AC: 11017 AN: 41382

American (AMR) AF: 0.352 AC: 5344 AN: 15176

Ashkenazi Jewish (ASJ) AF: 0.196 AC: 677 AN: 3460

East Asian (EAS) AF: 0.348 AC: 1783 AN: 5126

South Asian (SAS) AF: 0.175 AC: 839 AN: 4800

European-Finnish (FIN) AF: 0.271 AC: 2851 AN: 10528

Middle Eastern (MID) AF: 0.185 AC: 54 AN: 292

European-Non Finnish (NFE) AF: 0.276 AC: 18710 AN: 67784

Other (OTH) AF: 0.242 AC: 510 AN: 2106

Alfa AF: 0.178 Hom.: 372

Bravo AF: 0.285

Asia WGS AF: 0.240 AC: 832 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	0.67
DANN	Benign	0.49
PhyloP100		0.064

Splicing

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

Other links and lift over

dbSNP: rs166843; hg19: chr8-108604270;