17-43712597-A-G

Variant names:

• chr17-43712597-A-G
• rs7220711

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 0.514 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
• Publications: 25 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	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

African (AFR) AF: 0.765 AC: 31706 AN: 41468

American (AMR) AF: 0.484 AC: 7405 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.432 AC: 1500 AN: 3470

East Asian (EAS) AF: 0.334 AC: 1732 AN: 5184

South Asian (SAS) AF: 0.423 AC: 2039 AN: 4822

European-Finnish (FIN) AF: 0.507 AC: 5360 AN: 10568

Middle Eastern (MID) AF: 0.398 AC: 117 AN: 294

European-Non Finnish (NFE) AF: 0.398 AC: 27047 AN: 67992

Other (OTH) AF: 0.470 AC: 989 AN: 2104

Alfa AF: 0.434 Hom.: 8562

Bravo AF: 0.525

Asia WGS AF: 0.357 AC: 1241 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	5.5
DANN	Benign	0.61
PhyloP100		0.31

Splicing

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

Other links and lift over

dbSNP: rs7220711; hg19: chr17-41789965;