11-113385608-C-T

Variant names:

• chr11-113385608-C-T
• rs877137

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 0.373 in 152,084 control chromosomes in the GnomAD database, including 12,811 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 0.37 (12811 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.110
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.515 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: 0.373 AC: 56720 AN: 151966 Hom.: 12824 Cov.: 32

Gnomad AFR AF: 0.155

Gnomad AMI AF: 0.542

Gnomad AMR AF: 0.324

Gnomad ASJ AF: 0.521

Gnomad EAS AF: 0.0562

Gnomad SAS AF: 0.372

Gnomad FIN AF: 0.439

Gnomad MID AF: 0.484

Gnomad NFE AF: 0.519

Gnomad OTH AF: 0.430

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

GnomAD4 genome AF: 0.373 AC: 56713 AN: 152084 Hom.: 12811 Cov.: 32 AF XY: 0.366 AC XY: 27185 AN XY: 74362

African (AFR) AF: 0.155 AC: 6437 AN: 41482

American (AMR) AF: 0.323 AC: 4938 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.521 AC: 1808 AN: 3470

East Asian (EAS) AF: 0.0557 AC: 289 AN: 5184

South Asian (SAS) AF: 0.372 AC: 1790 AN: 4818

European-Finnish (FIN) AF: 0.439 AC: 4643 AN: 10572

Middle Eastern (MID) AF: 0.469 AC: 138 AN: 294

European-Non Finnish (NFE) AF: 0.519 AC: 35275 AN: 67958

Other (OTH) AF: 0.427 AC: 901 AN: 2110

Alfa AF: 0.315 Hom.: 1193

Bravo AF: 0.354

Asia WGS AF: 0.201 AC: 700 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.9
DANN	Benign	0.44
PhyloP100		0.11

Splicing

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

Other links and lift over

dbSNP: rs877137; hg19: chr11-113256330;