rs7219746

Variant names:

• chr17-41711717-A-G
• rs7219746

Your query was ambiguous. Multiple possible variants found:

• chr17-41711717-A-G
• chr17-41711717-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.666 in 151,730 control chromosomes in the GnomAD database, including 34,489 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 0.67 (34489 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.540
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.789 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: 0.666 AC: 100938 AN: 151614 Hom.: 34436 Cov.: 29

Gnomad AFR AF: 0.791

Gnomad AMI AF: 0.396

Gnomad AMR AF: 0.695

Gnomad ASJ AF: 0.588

Gnomad EAS AF: 0.809

Gnomad SAS AF: 0.762

Gnomad FIN AF: 0.685

Gnomad MID AF: 0.601

Gnomad NFE AF: 0.572

Gnomad OTH AF: 0.623

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

GnomAD4 genome AF: 0.666 AC: 101055 AN: 151730 Hom.: 34489 Cov.: 29 AF XY: 0.672 AC XY: 49850 AN XY: 74142

African (AFR) AF: 0.791 AC: 32730 AN: 41380

American (AMR) AF: 0.695 AC: 10578 AN: 15212

Ashkenazi Jewish (ASJ) AF: 0.588 AC: 2038 AN: 3464

East Asian (EAS) AF: 0.809 AC: 4151 AN: 5128

South Asian (SAS) AF: 0.762 AC: 3667 AN: 4810

European-Finnish (FIN) AF: 0.685 AC: 7223 AN: 10544

Middle Eastern (MID) AF: 0.599 AC: 176 AN: 294

European-Non Finnish (NFE) AF: 0.572 AC: 38810 AN: 67878

Other (OTH) AF: 0.627 AC: 1322 AN: 2110

Alfa AF: 0.606 Hom.: 76367

Bravo AF: 0.669

Asia WGS AF: 0.793 AC: 2758 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	1.3
DANN	Benign	0.50
PhyloP100		-0.54
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

Other links and lift over

dbSNP: rs7219746; hg19: chr17-39867969;