rs7109806

Variant names:

• chr11-8221082-T-C
• rs7109806

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 0.16 in 152,040 control chromosomes in the GnomAD database, including 3,124 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 0.16 (3124 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.695

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.348 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: 0.160 AC: 24253 AN: 151922 Hom.: 3117 Cov.: 33

Gnomad AFR AF: 0.353

Gnomad AMI AF: 0.167

Gnomad AMR AF: 0.104

Gnomad ASJ AF: 0.0790

Gnomad EAS AF: 0.0568

Gnomad SAS AF: 0.0479

Gnomad FIN AF: 0.0990

Gnomad MID AF: 0.0728

Gnomad NFE AF: 0.0849

Gnomad OTH AF: 0.128

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

GnomAD4 genome AF: 0.160 AC: 24292 AN: 152040 Hom.: 3124 Cov.: 33 AF XY: 0.157 AC XY: 11683 AN XY: 74328

Gnomad4 AFR AF: 0.353

Gnomad4 AMR AF: 0.104

Gnomad4 ASJ AF: 0.0790

Gnomad4 EAS AF: 0.0573

Gnomad4 SAS AF: 0.0473

Gnomad4 FIN AF: 0.0990

Gnomad4 NFE AF: 0.0849

Gnomad4 OTH AF: 0.131

Alfa AF: 0.0940 Hom.: 914

Bravo AF: 0.171

Asia WGS AF: 0.101 AC: 351 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.0
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: rs7109806; hg19: chr11-8242629;