rs7222705

Variant names:

• chr17-65438071-C-A
• rs7222705

Your query was ambiguous. Multiple possible variants found:

• chr17-65438071-C-A
• chr17-65438071-C-T

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 0.237 in 152,020 control chromosomes in the GnomAD database, including 7,296 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 0.24 (7296 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.652

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.547 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: 0.237 AC: 35946 AN: 151902 Hom.: 7274 Cov.: 32

Gnomad AFR AF: 0.552

Gnomad AMI AF: 0.170

Gnomad AMR AF: 0.136

Gnomad ASJ AF: 0.0801

Gnomad EAS AF: 0.317

Gnomad SAS AF: 0.124

Gnomad FIN AF: 0.121

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.0972

Gnomad OTH AF: 0.217

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

GnomAD4 genome AF: 0.237 AC: 36012 AN: 152020 Hom.: 7296 Cov.: 32 AF XY: 0.234 AC XY: 17372 AN XY: 74332

Gnomad4 AFR AF: 0.553

Gnomad4 AMR AF: 0.136

Gnomad4 ASJ AF: 0.0801

Gnomad4 EAS AF: 0.317

Gnomad4 SAS AF: 0.123

Gnomad4 FIN AF: 0.121

Gnomad4 NFE AF: 0.0972

Gnomad4 OTH AF: 0.216

Alfa AF: 0.106 Hom.: 774

Bravo AF: 0.254

Asia WGS AF: 0.265 AC: 922 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	0.43
DANN	Benign	0.45

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7222705; hg19: chr17-63434189;