rs1483121

Variant names:

• chr11-48311808-G-A
• rs1483121

Your query was ambiguous. Multiple possible variants found:

• chr11-48311808-G-A
• chr11-48311808-G-C
• chr11-48311808-G-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 0.0957 in 152,152 control chromosomes in the GnomAD database, including 958 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 0.096 (958 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0640

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 (NFE) allele frequency at 95% confidence interval = 0.144 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: 0.0957 AC: 14556 AN: 152034 Hom.: 958 Cov.: 33

Gnomad AFR AF: 0.0236

Gnomad AMI AF: 0.141

Gnomad AMR AF: 0.0906

Gnomad ASJ AF: 0.134

Gnomad EAS AF: 0.000384

Gnomad SAS AF: 0.0353

Gnomad FIN AF: 0.114

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.147

Gnomad OTH AF: 0.109

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

GnomAD4 genome AF: 0.0957 AC: 14554 AN: 152152 Hom.: 958 Cov.: 33 AF XY: 0.0914 AC XY: 6799 AN XY: 74370

Gnomad4 AFR AF: 0.0235

Gnomad4 AMR AF: 0.0904

Gnomad4 ASJ AF: 0.134

Gnomad4 EAS AF: 0.000578

Gnomad4 SAS AF: 0.0359

Gnomad4 FIN AF: 0.114

Gnomad4 NFE AF: 0.147

Gnomad4 OTH AF: 0.108

Alfa AF: 0.132 Hom.: 3309

Bravo AF: 0.0912

Asia WGS AF: 0.0180 AC: 61 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	3.8
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1483121; hg19: chr11-48333360;