rs7220711

Variant names:

• chr17-43712597-A-G
• rs7220711

Your query was ambiguous. Multiple possible variants found:

• chr17-43712597-A-G
• chr17-43712597-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 0.514 in 152,100 control chromosomes in the GnomAD database, including 22,092 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 0.51 (22092 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.311

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.758 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: 0.514 AC: 78125 AN: 151982 Hom.: 22042 Cov.: 32

Gnomad AFR AF: 0.764

Gnomad AMI AF: 0.358

Gnomad AMR AF: 0.485

Gnomad ASJ AF: 0.432

Gnomad EAS AF: 0.334

Gnomad SAS AF: 0.423

Gnomad FIN AF: 0.507

Gnomad MID AF: 0.399

Gnomad NFE AF: 0.398

Gnomad OTH AF: 0.474

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

GnomAD4 genome AF: 0.514 AC: 78221 AN: 152100 Hom.: 22092 Cov.: 32 AF XY: 0.516 AC XY: 38353 AN XY: 74354

Gnomad4 AFR AF: 0.765

Gnomad4 AMR AF: 0.484

Gnomad4 ASJ AF: 0.432

Gnomad4 EAS AF: 0.334

Gnomad4 SAS AF: 0.423

Gnomad4 FIN AF: 0.507

Gnomad4 NFE AF: 0.398

Gnomad4 OTH AF: 0.470

Alfa AF: 0.434 Hom.: 7670

Bravo AF: 0.525

Asia WGS AF: 0.357 AC: 1241 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	5.5
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7220711; hg19: chr17-41789965;