rs4393318

Variant names:

• chr11-63145313-A-C
• rs4393318

Your query was ambiguous. Multiple possible variants found:

• chr11-63145313-A-C
• chr11-63145313-A-G
• chr11-63145313-A-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 0.756 in 151,890 control chromosomes in the GnomAD database, including 45,119 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 0.76 (45119 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.851

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.878 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: 0.756 AC: 114796 AN: 151772 Hom.: 45114 Cov.: 30

Gnomad AFR AF: 0.522

Gnomad AMI AF: 0.799

Gnomad AMR AF: 0.829

Gnomad ASJ AF: 0.775

Gnomad EAS AF: 0.899

Gnomad SAS AF: 0.843

Gnomad FIN AF: 0.882

Gnomad MID AF: 0.763

Gnomad NFE AF: 0.843

Gnomad OTH AF: 0.793

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

GnomAD4 genome AF: 0.756 AC: 114825 AN: 151890 Hom.: 45119 Cov.: 30 AF XY: 0.759 AC XY: 56330 AN XY: 74212

Gnomad4 AFR AF: 0.521

Gnomad4 AMR AF: 0.829

Gnomad4 ASJ AF: 0.775

Gnomad4 EAS AF: 0.899

Gnomad4 SAS AF: 0.843

Gnomad4 FIN AF: 0.882

Gnomad4 NFE AF: 0.843

Gnomad4 OTH AF: 0.786

Alfa AF: 0.799 Hom.: 7218

Bravo AF: 0.745

Asia WGS AF: 0.823 AC: 2861 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	4.1
DANN	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4393318; hg19: chr11-62912785;