rs10113215

Variant names:

• chr8-59219635-A-G
• rs10113215

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 0.335 in 151,942 control chromosomes in the GnomAD database, including 9,081 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 0.34 (9081 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0130
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.494 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: 0.335 AC: 50923 AN: 151824 Hom.: 9073 Cov.: 31

Gnomad AFR AF: 0.302

Gnomad AMI AF: 0.541

Gnomad AMR AF: 0.485

Gnomad ASJ AF: 0.305

Gnomad EAS AF: 0.510

Gnomad SAS AF: 0.234

Gnomad FIN AF: 0.207

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.332

Gnomad OTH AF: 0.397

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

GnomAD4 genome AF: 0.335 AC: 50967 AN: 151942 Hom.: 9081 Cov.: 31 AF XY: 0.331 AC XY: 24577 AN XY: 74272

African (AFR) AF: 0.302 AC: 12534 AN: 41458

American (AMR) AF: 0.485 AC: 7389 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.305 AC: 1059 AN: 3470

East Asian (EAS) AF: 0.510 AC: 2637 AN: 5166

South Asian (SAS) AF: 0.235 AC: 1130 AN: 4816

European-Finnish (FIN) AF: 0.207 AC: 2187 AN: 10572

Middle Eastern (MID) AF: 0.439 AC: 129 AN: 294

European-Non Finnish (NFE) AF: 0.332 AC: 22578 AN: 67912

Other (OTH) AF: 0.396 AC: 833 AN: 2102

Alfa AF: 0.344 Hom.: 30740

Bravo AF: 0.362

Asia WGS AF: 0.342 AC: 1188 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.3
DANN	Benign	0.45
PhyloP100		-0.013

Splicing

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

Other links and lift over

dbSNP: rs10113215; hg19: chr8-60132194;