rs618453

Variant names:

• chr11-106362367-A-G
• rs618453

Your query was ambiguous. Multiple possible variants found:

• chr11-106362367-A-G
• chr11-106362367-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.392 in 152,142 control chromosomes in the GnomAD database, including 17,212 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 0.39 (17212 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.62
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.811 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: 0.392 AC: 59584 AN: 152024 Hom.: 17151 Cov.: 32

Gnomad AFR AF: 0.818

Gnomad AMI AF: 0.244

Gnomad AMR AF: 0.278

Gnomad ASJ AF: 0.321

Gnomad EAS AF: 0.113

Gnomad SAS AF: 0.185

Gnomad FIN AF: 0.212

Gnomad MID AF: 0.453

Gnomad NFE AF: 0.228

Gnomad OTH AF: 0.388

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

GnomAD4 genome AF: 0.392 AC: 59699 AN: 152142 Hom.: 17212 Cov.: 32 AF XY: 0.383 AC XY: 28515 AN XY: 74370

African (AFR) AF: 0.818 AC: 33952 AN: 41508

American (AMR) AF: 0.278 AC: 4251 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.321 AC: 1110 AN: 3462

East Asian (EAS) AF: 0.114 AC: 589 AN: 5170

South Asian (SAS) AF: 0.184 AC: 888 AN: 4824

European-Finnish (FIN) AF: 0.212 AC: 2249 AN: 10590

Middle Eastern (MID) AF: 0.439 AC: 129 AN: 294

European-Non Finnish (NFE) AF: 0.228 AC: 15480 AN: 67980

Other (OTH) AF: 0.393 AC: 829 AN: 2112

Alfa AF: 0.305 Hom.: 19101

Bravo AF: 0.418

Asia WGS AF: 0.244 AC: 850 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.17
DANN	Benign	0.41
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs618453; hg19: chr11-106233094;