rs17157052

chr10-1821357-A-G

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 0.227 in 152,094 control chromosomes in the GnomAD database, including 4,153 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 0.23 (4153 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.41

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.33 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: 0.227 AC: 34495 AN: 151976 Hom.: 4141 Cov.: 32

Gnomad AFR AF: 0.253

Gnomad AMI AF: 0.228

Gnomad AMR AF: 0.234

Gnomad ASJ AF: 0.158

Gnomad EAS AF: 0.344

Gnomad SAS AF: 0.301

Gnomad FIN AF: 0.187

Gnomad MID AF: 0.158

Gnomad NFE AF: 0.206

Gnomad OTH AF: 0.209

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

GnomAD4 genome AF: 0.227 AC: 34557 AN: 152094 Hom.: 4153 Cov.: 32 AF XY: 0.227 AC XY: 16883 AN XY: 74360

Gnomad4 AFR AF: 0.253

Gnomad4 AMR AF: 0.234

Gnomad4 ASJ AF: 0.158

Gnomad4 EAS AF: 0.344

Gnomad4 SAS AF: 0.302

Gnomad4 FIN AF: 0.187

Gnomad4 NFE AF: 0.206

Gnomad4 OTH AF: 0.213

Alfa AF: 0.217 Hom.: 2904

Bravo AF: 0.231

Asia WGS AF: 0.332 AC: 1155 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	0.094
Dann	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17157052; hg19: chr10-1863551;