rs113652043

Variant names:

• chr11-25200053-C-A
• rs113652043

Your query was ambiguous. Multiple possible variants found:

• chr11-25200053-C-A
• chr11-25200053-C-G
• chr11-25200053-C-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 0.0367 in 140,106 control chromosomes in the GnomAD database, including 193 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 0.037 (193 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0170
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0932 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: 0.0366 AC: 5127 AN: 140116 Hom.: 193 Cov.: 29

Gnomad AFR AF: 0.0956

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0206

Gnomad ASJ AF: 0.00663

Gnomad EAS AF: 0.000219

Gnomad SAS AF: 0.00318

Gnomad FIN AF: 0.0227

Gnomad MID AF: 0.0846

Gnomad NFE AF: 0.0140

Gnomad OTH AF: 0.0287

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

GnomAD4 genome AF: 0.0367 AC: 5135 AN: 140106 Hom.: 193 Cov.: 29 AF XY: 0.0367 AC XY: 2476 AN XY: 67522

African (AFR) AF: 0.0958 AC: 3646 AN: 38058

American (AMR) AF: 0.0206 AC: 287 AN: 13930

Ashkenazi Jewish (ASJ) AF: 0.00663 AC: 22 AN: 3320

East Asian (EAS) AF: 0.000220 AC: 1 AN: 4548

South Asian (SAS) AF: 0.00297 AC: 13 AN: 4376

European-Finnish (FIN) AF: 0.0227 AC: 187 AN: 8256

Middle Eastern (MID) AF: 0.0833 AC: 21 AN: 252

European-Non Finnish (NFE) AF: 0.0140 AC: 903 AN: 64560

Other (OTH) AF: 0.0286 AC: 55 AN: 1920

Alfa AF: 0.00474 Hom.: 1

Bravo AF: 0.0369

Asia WGS AF: 0.0110 AC: 38 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.4
DANN	Benign	0.66
PhyloP100		0.017

Splicing

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

Other links and lift over

dbSNP: rs113652043; hg19: chr11-25221599;