rs8076220

chr17-11197348-T-C

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 0.1 in 152,174 control chromosomes in the GnomAD database, including 836 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 0.10 (836 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.689

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 (AFR) allele frequency at 95% confidence interval = 0.123 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.100 AC: 15201 AN: 152056 Hom.: 836 Cov.: 32

Gnomad AFR AF: 0.126

Gnomad AMI AF: 0.160

Gnomad AMR AF: 0.0858

Gnomad ASJ AF: 0.127

Gnomad EAS AF: 0.00135

Gnomad SAS AF: 0.0491

Gnomad FIN AF: 0.0841

Gnomad MID AF: 0.142

Gnomad NFE AF: 0.0982

Gnomad OTH AF: 0.115

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

GnomAD4 genome AF: 0.100 AC: 15210 AN: 152174 Hom.: 836 Cov.: 32 AF XY: 0.0986 AC XY: 7332 AN XY: 74390

Gnomad4 AFR AF: 0.126

Gnomad4 AMR AF: 0.0857

Gnomad4 ASJ AF: 0.127

Gnomad4 EAS AF: 0.00135

Gnomad4 SAS AF: 0.0489

Gnomad4 FIN AF: 0.0841

Gnomad4 NFE AF: 0.0981

Gnomad4 OTH AF: 0.114

Alfa AF: 0.0938 Hom.: 210

Bravo AF: 0.103

Asia WGS AF: 0.0410 AC: 143 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	0.61
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: rs8076220; hg19: chr17-11100665;