rs10504255

Variant names:

• chr8-58485902-G-A
• rs10504255

Your query was ambiguous. Multiple possible variants found:

• chr8-58485902-G-A
• chr8-58485902-G-C
• chr8-58485902-G-T

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.745 in 152,144 control chromosomes in the GnomAD database, including 43,272 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 0.75 (43272 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.293

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.36).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.916 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: 0.745 AC: 113229 AN: 152026 Hom.: 43208 Cov.: 32

Gnomad AFR AF: 0.924

Gnomad AMI AF: 0.646

Gnomad AMR AF: 0.776

Gnomad ASJ AF: 0.693

Gnomad EAS AF: 0.790

Gnomad SAS AF: 0.677

Gnomad FIN AF: 0.608

Gnomad MID AF: 0.734

Gnomad NFE AF: 0.656

Gnomad OTH AF: 0.729

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

GnomAD4 genome AF: 0.745 AC: 113355 AN: 152144 Hom.: 43272 Cov.: 32 AF XY: 0.742 AC XY: 55184 AN XY: 74352

Gnomad4 AFR AF: 0.924

Gnomad4 AMR AF: 0.776

Gnomad4 ASJ AF: 0.693

Gnomad4 EAS AF: 0.791

Gnomad4 SAS AF: 0.676

Gnomad4 FIN AF: 0.608

Gnomad4 NFE AF: 0.656

Gnomad4 OTH AF: 0.732

Alfa AF: 0.672 Hom.: 46148

Bravo AF: 0.766

Asia WGS AF: 0.742 AC: 2578 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.36
CADD	Benign	12
DANN	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10504255; hg19: chr8-59398461;