rs10112296

Variant names:

• chr8-109173064-C-T
• rs10112296

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 0.327 in 152,078 control chromosomes in the GnomAD database, including 8,671 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 0.33 (8671 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.18
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.456 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.327 AC: 49679 AN: 151960 Hom.: 8665 Cov.: 32

Gnomad AFR AF: 0.222

Gnomad AMI AF: 0.557

Gnomad AMR AF: 0.432

Gnomad ASJ AF: 0.198

Gnomad EAS AF: 0.470

Gnomad SAS AF: 0.430

Gnomad FIN AF: 0.393

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.343

Gnomad OTH AF: 0.308

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

GnomAD4 genome AF: 0.327 AC: 49706 AN: 152078 Hom.: 8671 Cov.: 32 AF XY: 0.332 AC XY: 24711 AN XY: 74326

African (AFR) AF: 0.222 AC: 9214 AN: 41514

American (AMR) AF: 0.432 AC: 6597 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.198 AC: 686 AN: 3466

East Asian (EAS) AF: 0.471 AC: 2439 AN: 5174

South Asian (SAS) AF: 0.429 AC: 2068 AN: 4820

European-Finnish (FIN) AF: 0.393 AC: 4149 AN: 10566

Middle Eastern (MID) AF: 0.201 AC: 59 AN: 294

European-Non Finnish (NFE) AF: 0.343 AC: 23327 AN: 67952

Other (OTH) AF: 0.313 AC: 660 AN: 2110

Alfa AF: 0.342 Hom.: 1631

Bravo AF: 0.325

Asia WGS AF: 0.471 AC: 1638 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.43
DANN	Benign	0.51
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs10112296; hg19: chr8-110185293;