rs10094577

Variant names:

• chr8-42230058-T-C
• rs10094577

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 0.173 in 152,054 control chromosomes in the GnomAD database, including 4,800 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 (4800 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0910

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.455 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: 0.173 AC: 26217 AN: 151936 Hom.: 4773 Cov.: 32

Gnomad AFR AF: 0.460

Gnomad AMI AF: 0.0175

Gnomad AMR AF: 0.0908

Gnomad ASJ AF: 0.0325

Gnomad EAS AF: 0.0406

Gnomad SAS AF: 0.220

Gnomad FIN AF: 0.0291

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.0567

Gnomad OTH AF: 0.130

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

GnomAD4 genome AF: 0.173 AC: 26289 AN: 152054 Hom.: 4800 Cov.: 32 AF XY: 0.169 AC XY: 12544 AN XY: 74366

Gnomad4 AFR AF: 0.460

Gnomad4 AMR AF: 0.0906

Gnomad4 ASJ AF: 0.0325

Gnomad4 EAS AF: 0.0401

Gnomad4 SAS AF: 0.219

Gnomad4 FIN AF: 0.0291

Gnomad4 NFE AF: 0.0567

Gnomad4 OTH AF: 0.128

Alfa AF: 0.0740 Hom.: 1320

Bravo AF: 0.184

Asia WGS AF: 0.198 AC: 686 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	7.1
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10094577; hg19: chr8-42087576;