rs7208206

Variant names:

• chr17-54396191-T-G
• rs7208206

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 0.0747 in 152,192 control chromosomes in the GnomAD database, including 846 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 0.075 (846 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.148

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.183 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: 0.0747 AC: 11356 AN: 152074 Hom.: 845 Cov.: 32

Gnomad AFR AF: 0.186

Gnomad AMI AF: 0.0515

Gnomad AMR AF: 0.0444

Gnomad ASJ AF: 0.0570

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.0462

Gnomad FIN AF: 0.0102

Gnomad MID AF: 0.0728

Gnomad NFE AF: 0.0331

Gnomad OTH AF: 0.0559

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

GnomAD4 genome AF: 0.0747 AC: 11369 AN: 152192 Hom.: 846 Cov.: 32 AF XY: 0.0714 AC XY: 5316 AN XY: 74416

Gnomad4 AFR AF: 0.186

Gnomad4 AMR AF: 0.0444

Gnomad4 ASJ AF: 0.0570

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.0459

Gnomad4 FIN AF: 0.0102

Gnomad4 NFE AF: 0.0331

Gnomad4 OTH AF: 0.0558

Alfa AF: 0.0577 Hom.: 78

Bravo AF: 0.0806

Asia WGS AF: 0.0290 AC: 102 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	3.6
DANN	Benign	0.84

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7208206; hg19: chr17-52473552;