rs7210086

Variant names:

• chr17-72645559-A-C
• rs7210086

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 0.175 in 152,030 control chromosomes in the GnomAD database, including 2,432 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 0.17 (2432 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0230
• Publications: 26 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.231 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: 0.175 AC: 26509 AN: 151912 Hom.: 2420 Cov.: 32

Gnomad AFR AF: 0.130

Gnomad AMI AF: 0.182

Gnomad AMR AF: 0.207

Gnomad ASJ AF: 0.227

Gnomad EAS AF: 0.147

Gnomad SAS AF: 0.243

Gnomad FIN AF: 0.166

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.190

Gnomad OTH AF: 0.186

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

GnomAD4 genome AF: 0.175 AC: 26537 AN: 152030 Hom.: 2432 Cov.: 32 AF XY: 0.175 AC XY: 12998 AN XY: 74318

African (AFR) AF: 0.131 AC: 5418 AN: 41488

American (AMR) AF: 0.207 AC: 3161 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.227 AC: 786 AN: 3468

East Asian (EAS) AF: 0.146 AC: 755 AN: 5156

South Asian (SAS) AF: 0.242 AC: 1165 AN: 4810

European-Finnish (FIN) AF: 0.166 AC: 1752 AN: 10576

Middle Eastern (MID) AF: 0.197 AC: 58 AN: 294

European-Non Finnish (NFE) AF: 0.190 AC: 12885 AN: 67950

Other (OTH) AF: 0.185 AC: 391 AN: 2110

Alfa AF: 0.189 Hom.: 8429

Bravo AF: 0.176

Asia WGS AF: 0.195 AC: 678 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.52
DANN	Benign	0.72
PhyloP100		0.023

Splicing

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

Other links and lift over

dbSNP: rs7210086; hg19: chr17-70641698;