rs11605303

Variant names:

• chr11-1038110-G-A
• rs11605303

Your query was ambiguous. Multiple possible variants found:

• chr11-1038110-G-A
• chr11-1038110-G-C

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 0.0748 in 152,274 control chromosomes in the GnomAD database, including 451 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 0.075 (451 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0590
• Publications: 14 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0792 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: 0.0748 AC: 11377 AN: 152156 Hom.: 451 Cov.: 34

Gnomad AFR AF: 0.0799

Gnomad AMI AF: 0.0746

Gnomad AMR AF: 0.0654

Gnomad ASJ AF: 0.0829

Gnomad EAS AF: 0.000962

Gnomad SAS AF: 0.0159

Gnomad FIN AF: 0.0853

Gnomad MID AF: 0.140

Gnomad NFE AF: 0.0810

Gnomad OTH AF: 0.0818

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

GnomAD4 genome AF: 0.0748 AC: 11387 AN: 152274 Hom.: 451 Cov.: 34 AF XY: 0.0731 AC XY: 5444 AN XY: 74468

African (AFR) AF: 0.0800 AC: 3322 AN: 41550

American (AMR) AF: 0.0653 AC: 998 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0829 AC: 288 AN: 3472

East Asian (EAS) AF: 0.00116 AC: 6 AN: 5184

South Asian (SAS) AF: 0.0164 AC: 79 AN: 4828

European-Finnish (FIN) AF: 0.0853 AC: 906 AN: 10618

Middle Eastern (MID) AF: 0.151 AC: 44 AN: 292

European-Non Finnish (NFE) AF: 0.0809 AC: 5505 AN: 68014

Other (OTH) AF: 0.0810 AC: 171 AN: 2112

Alfa AF: 0.0744 Hom.: 812

Bravo AF: 0.0741

Asia WGS AF: 0.0170 AC: 62 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	4.8
DANN	Benign	0.59
PhyloP100		-0.059

Splicing

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

Other links and lift over

dbSNP: rs11605303; hg19: chr11-1038110;