rs10094981

Positions:

• chr8-40973775-A-C
• chr8-40973775-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.311 in 152,080 control chromosomes in the GnomAD database, including 8,246 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 0.31 (8246 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.248

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.474 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.311 AC: 47217 AN: 151962 Hom.: 8237 Cov.: 32

Gnomad AFR AF: 0.480

Gnomad AMI AF: 0.189

Gnomad AMR AF: 0.241

Gnomad ASJ AF: 0.250

Gnomad EAS AF: 0.240

Gnomad SAS AF: 0.321

Gnomad FIN AF: 0.201

Gnomad MID AF: 0.250

Gnomad NFE AF: 0.251

Gnomad OTH AF: 0.290

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

GnomAD4 genome AF: 0.311 AC: 47258 AN: 152080 Hom.: 8246 Cov.: 32 AF XY: 0.305 AC XY: 22692 AN XY: 74364

Gnomad4 AFR AF: 0.479

Gnomad4 AMR AF: 0.241

Gnomad4 ASJ AF: 0.250

Gnomad4 EAS AF: 0.239

Gnomad4 SAS AF: 0.321

Gnomad4 FIN AF: 0.201

Gnomad4 NFE AF: 0.251

Gnomad4 OTH AF: 0.292

Alfa AF: 0.253 Hom.: 5865

Bravo AF: 0.320

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	5.1
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10094981; hg19: chr8-40831294;