rs7220711

chr17-43712597-A-Gchr17-43712597-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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;