rs7120886

Variant names:

• chr11-1217598-T-G
• rs7120886

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 0.31 in 151,316 control chromosomes in the GnomAD database, including 8,224 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 0.31 (8224 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.06

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.478 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: 0.309 AC: 46793 AN: 151196 Hom.: 8196 Cov.: 31

Gnomad AFR AF: 0.483

Gnomad AMI AF: 0.254

Gnomad AMR AF: 0.216

Gnomad ASJ AF: 0.178

Gnomad EAS AF: 0.103

Gnomad SAS AF: 0.246

Gnomad FIN AF: 0.292

Gnomad MID AF: 0.229

Gnomad NFE AF: 0.256

Gnomad OTH AF: 0.308

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

GnomAD4 genome AF: 0.310 AC: 46873 AN: 151316 Hom.: 8224 Cov.: 31 AF XY: 0.309 AC XY: 22821 AN XY: 73902

Gnomad4 AFR AF: 0.484

Gnomad4 AMR AF: 0.215

Gnomad4 ASJ AF: 0.178

Gnomad4 EAS AF: 0.102

Gnomad4 SAS AF: 0.244

Gnomad4 FIN AF: 0.292

Gnomad4 NFE AF: 0.256

Gnomad4 OTH AF: 0.307

Alfa AF: 0.262 Hom.: 9557

Bravo AF: 0.308

Asia WGS AF: 0.224 AC: 781 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.67
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7120886; hg19: chr11-1238828;