rs10086929

Variant names:

• chr8-59177738-A-G
• rs10086929

Your query was ambiguous. Multiple possible variants found:

• chr8-59177738-A-G
• chr8-59177738-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 0.46 in 151,544 control chromosomes in the GnomAD database, including 16,520 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 0.46 (16520 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.424

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 (AMR) allele frequency at 95% confidence interval = 0.565 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: 0.459 AC: 69579 AN: 151424 Hom.: 16504 Cov.: 30

Gnomad AFR AF: 0.473

Gnomad AMI AF: 0.716

Gnomad AMR AF: 0.575

Gnomad ASJ AF: 0.454

Gnomad EAS AF: 0.546

Gnomad SAS AF: 0.298

Gnomad FIN AF: 0.291

Gnomad MID AF: 0.475

Gnomad NFE AF: 0.452

Gnomad OTH AF: 0.506

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

GnomAD4 genome AF: 0.460 AC: 69635 AN: 151544 Hom.: 16520 Cov.: 30 AF XY: 0.452 AC XY: 33453 AN XY: 74028

Gnomad4 AFR AF: 0.472

Gnomad4 AMR AF: 0.576

Gnomad4 ASJ AF: 0.454

Gnomad4 EAS AF: 0.546

Gnomad4 SAS AF: 0.299

Gnomad4 FIN AF: 0.291

Gnomad4 NFE AF: 0.452

Gnomad4 OTH AF: 0.506

Alfa AF: 0.442 Hom.: 1806

Bravo AF: 0.490

Asia WGS AF: 0.418 AC: 1455 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	1.1
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10086929; hg19: chr8-60090297;