rs10505119

Variant names:

• chr8-108115293-A-G
• rs10505119

Your query was ambiguous. Multiple possible variants found:

• chr8-108115293-A-G
• chr8-108115293-A-T

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 0.172 in 152,238 control chromosomes in the GnomAD database, including 2,754 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 0.17 (2754 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.203
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.388 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: 0.172 AC: 26225 AN: 152120 Hom.: 2745 Cov.: 33

Gnomad AFR AF: 0.0595

Gnomad AMI AF: 0.184

Gnomad AMR AF: 0.164

Gnomad ASJ AF: 0.213

Gnomad EAS AF: 0.401

Gnomad SAS AF: 0.240

Gnomad FIN AF: 0.223

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.210

Gnomad OTH AF: 0.170

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

GnomAD4 genome AF: 0.172 AC: 26244 AN: 152238 Hom.: 2754 Cov.: 33 AF XY: 0.176 AC XY: 13119 AN XY: 74428

African (AFR) AF: 0.0594 AC: 2470 AN: 41556

American (AMR) AF: 0.164 AC: 2506 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.213 AC: 739 AN: 3468

East Asian (EAS) AF: 0.402 AC: 2081 AN: 5178

South Asian (SAS) AF: 0.240 AC: 1157 AN: 4824

European-Finnish (FIN) AF: 0.223 AC: 2366 AN: 10594

Middle Eastern (MID) AF: 0.252 AC: 74 AN: 294

European-Non Finnish (NFE) AF: 0.210 AC: 14301 AN: 68004

Other (OTH) AF: 0.181 AC: 382 AN: 2116

Alfa AF: 0.192 Hom.: 2865

Bravo AF: 0.164

Asia WGS AF: 0.327 AC: 1138 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	3.1
DANN	Benign	0.78
PhyloP100		0.20

Splicing

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

Other links and lift over

dbSNP: rs10505119; hg19: chr8-109127521;