rs7222710

Variant names:

• chr17-66204123-G-A
• rs7222710

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 0.364 in 152,030 control chromosomes in the GnomAD database, including 10,785 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 0.36 (10785 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.241
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.422 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: 0.364 AC: 55295 AN: 151912 Hom.: 10786 Cov.: 32

Gnomad AFR AF: 0.264

Gnomad AMI AF: 0.302

Gnomad AMR AF: 0.369

Gnomad ASJ AF: 0.540

Gnomad EAS AF: 0.0708

Gnomad SAS AF: 0.295

Gnomad FIN AF: 0.452

Gnomad MID AF: 0.525

Gnomad NFE AF: 0.426

Gnomad OTH AF: 0.415

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

GnomAD4 genome AF: 0.364 AC: 55305 AN: 152030 Hom.: 10785 Cov.: 32 AF XY: 0.363 AC XY: 26959 AN XY: 74312

African (AFR) AF: 0.264 AC: 10964 AN: 41472

American (AMR) AF: 0.369 AC: 5635 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.540 AC: 1874 AN: 3470

East Asian (EAS) AF: 0.0710 AC: 366 AN: 5154

South Asian (SAS) AF: 0.296 AC: 1425 AN: 4816

European-Finnish (FIN) AF: 0.452 AC: 4771 AN: 10556

Middle Eastern (MID) AF: 0.520 AC: 153 AN: 294

European-Non Finnish (NFE) AF: 0.426 AC: 28979 AN: 67980

Other (OTH) AF: 0.409 AC: 863 AN: 2110

Alfa AF: 0.405 Hom.: 50540

Bravo AF: 0.356

Asia WGS AF: 0.209 AC: 728 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.0
DANN	Benign	0.68
PhyloP100		0.24

Splicing

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

Other links and lift over

dbSNP: rs7222710; hg19: chr17-64200241;