rs11224336

Variant names:

• chr11-100632801-G-A
• rs11224336

Your query was ambiguous. Multiple possible variants found:

• chr11-100632801-G-A
• chr11-100632801-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 0.0737 in 152,226 control chromosomes in the GnomAD database, including 577 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 0.074 (577 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.577

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.215 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: 0.0738 AC: 11228 AN: 152108 Hom.: 579 Cov.: 33

Gnomad AFR AF: 0.0175

Gnomad AMI AF: 0.0110

Gnomad AMR AF: 0.0688

Gnomad ASJ AF: 0.130

Gnomad EAS AF: 0.227

Gnomad SAS AF: 0.0603

Gnomad FIN AF: 0.0971

Gnomad MID AF: 0.104

Gnomad NFE AF: 0.0924

Gnomad OTH AF: 0.0829

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

GnomAD4 genome AF: 0.0737 AC: 11226 AN: 152226 Hom.: 577 Cov.: 33 AF XY: 0.0740 AC XY: 5505 AN XY: 74422

Gnomad4 AFR AF: 0.0175

Gnomad4 AMR AF: 0.0686

Gnomad4 ASJ AF: 0.130

Gnomad4 EAS AF: 0.226

Gnomad4 SAS AF: 0.0606

Gnomad4 FIN AF: 0.0971

Gnomad4 NFE AF: 0.0925

Gnomad4 OTH AF: 0.0844

Alfa AF: 0.0757 Hom.: 62

Bravo AF: 0.0703

Asia WGS AF: 0.115 AC: 401 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	3.1
DANN	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11224336; hg19: chr11-100503532;