rs7225881

Variant names:

• chr17-74159163-G-A
• rs7225881

Your query was ambiguous. Multiple possible variants found:

• chr17-74159163-G-A
• chr17-74159163-G-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 0.211 in 152,104 control chromosomes in the GnomAD database, including 3,665 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 0.21 (3665 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.31

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.249 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: 0.211 AC: 32062 AN: 151986 Hom.: 3659 Cov.: 32

Gnomad AFR AF: 0.128

Gnomad AMI AF: 0.189

Gnomad AMR AF: 0.200

Gnomad ASJ AF: 0.207

Gnomad EAS AF: 0.262

Gnomad SAS AF: 0.152

Gnomad FIN AF: 0.302

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.251

Gnomad OTH AF: 0.214

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

GnomAD4 genome AF: 0.211 AC: 32090 AN: 152104 Hom.: 3665 Cov.: 32 AF XY: 0.211 AC XY: 15718 AN XY: 74354

Gnomad4 AFR AF: 0.128

Gnomad4 AMR AF: 0.200

Gnomad4 ASJ AF: 0.207

Gnomad4 EAS AF: 0.261

Gnomad4 SAS AF: 0.153

Gnomad4 FIN AF: 0.302

Gnomad4 NFE AF: 0.251

Gnomad4 OTH AF: 0.214

Alfa AF: 0.238 Hom.: 6972

Bravo AF: 0.201

Asia WGS AF: 0.197 AC: 685 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.28
DANN	Benign	0.25

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7225881; hg19: chr17-72155302;