rs7128099

Variant names:

• chr11-20334898-G-A
• rs7128099

Your query was ambiguous. Multiple possible variants found:

• chr11-20334898-G-A
• chr11-20334898-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 0.712 in 151,900 control chromosomes in the GnomAD database, including 40,524 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 0.71 (40524 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.259

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 (NFE) allele frequency at 95% confidence interval = 0.832 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: 0.712 AC: 108141 AN: 151790 Hom.: 40515 Cov.: 30

Gnomad AFR AF: 0.520

Gnomad AMI AF: 0.837

Gnomad AMR AF: 0.692

Gnomad ASJ AF: 0.850

Gnomad EAS AF: 0.277

Gnomad SAS AF: 0.743

Gnomad FIN AF: 0.816

Gnomad MID AF: 0.832

Gnomad NFE AF: 0.838

Gnomad OTH AF: 0.752

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

GnomAD4 genome AF: 0.712 AC: 108175 AN: 151900 Hom.: 40524 Cov.: 30 AF XY: 0.710 AC XY: 52693 AN XY: 74242

Gnomad4 AFR AF: 0.520

Gnomad4 AMR AF: 0.692

Gnomad4 ASJ AF: 0.850

Gnomad4 EAS AF: 0.277

Gnomad4 SAS AF: 0.742

Gnomad4 FIN AF: 0.816

Gnomad4 NFE AF: 0.838

Gnomad4 OTH AF: 0.751

Alfa AF: 0.808 Hom.: 73626

Bravo AF: 0.695

Asia WGS AF: 0.577 AC: 2010 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	3.0
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7128099; hg19: chr11-20356444;