rs7222710

Positions:

• chr17-66204123-G-A

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 0.364 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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

Gnomad4 AFR AF: 0.264

Gnomad4 AMR AF: 0.369

Gnomad4 ASJ AF: 0.540

Gnomad4 EAS AF: 0.0710

Gnomad4 SAS AF: 0.296

Gnomad4 FIN AF: 0.452

Gnomad4 NFE AF: 0.426

Gnomad4 OTH AF: 0.409

Alfa AF: 0.417 Hom.: 23632

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7222710; hg19: chr17-64200241;