rs10492294

Variant names:

• chr8-128234169-T-C
• rs10492294

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 0.171 in 152,178 control chromosomes in the GnomAD database, including 2,706 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 (2706 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.576

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.219 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: 0.171 AC: 25956 AN: 152060 Hom.: 2702 Cov.: 32

Gnomad AFR AF: 0.0492

Gnomad AMI AF: 0.194

Gnomad AMR AF: 0.212

Gnomad ASJ AF: 0.303

Gnomad EAS AF: 0.151

Gnomad SAS AF: 0.215

Gnomad FIN AF: 0.197

Gnomad MID AF: 0.237

Gnomad NFE AF: 0.222

Gnomad OTH AF: 0.185

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

GnomAD4 genome AF: 0.171 AC: 25967 AN: 152178 Hom.: 2706 Cov.: 32 AF XY: 0.172 AC XY: 12773 AN XY: 74392

Gnomad4 AFR AF: 0.0491 AC: 0.0490517 AN: 0.0490517

Gnomad4 AMR AF: 0.212 AC: 0.212117 AN: 0.212117

Gnomad4 ASJ AF: 0.303 AC: 0.30317 AN: 0.30317

Gnomad4 EAS AF: 0.152 AC: 0.151931 AN: 0.151931

Gnomad4 SAS AF: 0.215 AC: 0.214967 AN: 0.214967

Gnomad4 FIN AF: 0.197 AC: 0.197015 AN: 0.197015

Gnomad4 NFE AF: 0.222 AC: 0.221928 AN: 0.221928

Gnomad4 OTH AF: 0.186 AC: 0.185782 AN: 0.185782

Alfa AF: 0.205 Hom.: 11430

Bravo AF: 0.165

Asia WGS AF: 0.187 AC: 650 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	5.1
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10492294; hg19: chr8-129246415;