rs7793103

Variant names:

• chr7-22107222-A-G
• rs7793103

Your query was ambiguous. Multiple possible variants found:

• chr7-22107222-A-G
• chr7-22107222-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 0.249 in 152,060 control chromosomes in the GnomAD database, including 5,397 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 0.25 (5397 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.257

ACMG classification

Verdict is Benign. Variant got -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 = 0.576 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: 0.249 AC: 37812 AN: 151940 Hom.: 5384 Cov.: 32

Gnomad AFR AF: 0.340

Gnomad AMI AF: 0.248

Gnomad AMR AF: 0.165

Gnomad ASJ AF: 0.165

Gnomad EAS AF: 0.594

Gnomad SAS AF: 0.245

Gnomad FIN AF: 0.263

Gnomad MID AF: 0.174

Gnomad NFE AF: 0.189

Gnomad OTH AF: 0.237

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

GnomAD4 genome AF: 0.249 AC: 37863 AN: 152060 Hom.: 5397 Cov.: 32 AF XY: 0.254 AC XY: 18863 AN XY: 74346

Gnomad4 AFR AF: 0.341

Gnomad4 AMR AF: 0.165

Gnomad4 ASJ AF: 0.165

Gnomad4 EAS AF: 0.594

Gnomad4 SAS AF: 0.243

Gnomad4 FIN AF: 0.263

Gnomad4 NFE AF: 0.189

Gnomad4 OTH AF: 0.243

Alfa AF: 0.199 Hom.: 6636

Bravo AF: 0.249

Asia WGS AF: 0.374 AC: 1302 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	3.8
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7793103; hg19: chr7-22146840;