rs7111590

Variant names:

• chr11-123055419-C-G
• rs7111590

Your query was ambiguous. Multiple possible variants found:

• chr11-123055419-C-G
• chr11-123055419-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 0.231 in 152,112 control chromosomes in the GnomAD database, including 4,905 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 0.23 (4905 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.267

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.387 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: 0.230 AC: 35029 AN: 151992 Hom.: 4887 Cov.: 32

Gnomad AFR AF: 0.391

Gnomad AMI AF: 0.209

Gnomad AMR AF: 0.196

Gnomad ASJ AF: 0.143

Gnomad EAS AF: 0.0880

Gnomad SAS AF: 0.272

Gnomad FIN AF: 0.154

Gnomad MID AF: 0.171

Gnomad NFE AF: 0.166

Gnomad OTH AF: 0.206

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

GnomAD4 genome AF: 0.231 AC: 35097 AN: 152112 Hom.: 4905 Cov.: 32 AF XY: 0.229 AC XY: 17057 AN XY: 74382

Gnomad4 AFR AF: 0.392

Gnomad4 AMR AF: 0.196

Gnomad4 ASJ AF: 0.143

Gnomad4 EAS AF: 0.0884

Gnomad4 SAS AF: 0.270

Gnomad4 FIN AF: 0.154

Gnomad4 NFE AF: 0.166

Gnomad4 OTH AF: 0.203

Alfa AF: 0.194 Hom.: 438

Bravo AF: 0.239

Asia WGS AF: 0.195 AC: 675 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	2.4
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7111590; hg19: chr11-122926127;