rs7103224

Variant names:

• chr11-116793250-G-A
• rs7103224

Your query was ambiguous. Multiple possible variants found:

• chr11-116793250-G-A
• chr11-116793250-G-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 0.0602 in 152,018 control chromosomes in the GnomAD database, including 470 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 0.060 (470 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.557

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.207 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: 0.0604 AC: 9171 AN: 151900 Hom.: 471 Cov.: 32

Gnomad AFR AF: 0.0146

Gnomad AMI AF: 0.00987

Gnomad AMR AF: 0.0403

Gnomad ASJ AF: 0.0493

Gnomad EAS AF: 0.0714

Gnomad SAS AF: 0.219

Gnomad FIN AF: 0.100

Gnomad MID AF: 0.0791

Gnomad NFE AF: 0.0759

Gnomad OTH AF: 0.0550

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

GnomAD4 genome AF: 0.0602 AC: 9158 AN: 152018 Hom.: 470 Cov.: 32 AF XY: 0.0640 AC XY: 4755 AN XY: 74288

Gnomad4 AFR AF: 0.0145

Gnomad4 AMR AF: 0.0401

Gnomad4 ASJ AF: 0.0493

Gnomad4 EAS AF: 0.0715

Gnomad4 SAS AF: 0.218

Gnomad4 FIN AF: 0.100

Gnomad4 NFE AF: 0.0758

Gnomad4 OTH AF: 0.0539

Alfa AF: 0.0630 Hom.: 42

Bravo AF: 0.0511

Asia WGS AF: 0.126 AC: 438 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.84
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7103224; hg19: chr11-116663966;