rs368911

chr11-37068219-G-Achr11-37068219-G-T

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 0.343 in 152,052 control chromosomes in the GnomAD database, including 9,128 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 0.34 (9128 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.17

ACMG classification

Verdict is Benign. Variant got -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 = 0.362 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.343 AC: 52123 AN: 151934 Hom.: 9116 Cov.: 33

Gnomad AFR AF: 0.367

Gnomad AMI AF: 0.421

Gnomad AMR AF: 0.332

Gnomad ASJ AF: 0.377

Gnomad EAS AF: 0.186

Gnomad SAS AF: 0.254

Gnomad FIN AF: 0.284

Gnomad MID AF: 0.373

Gnomad NFE AF: 0.355

Gnomad OTH AF: 0.357

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

GnomAD4 genome AF: 0.343 AC: 52166 AN: 152052 Hom.: 9128 Cov.: 33 AF XY: 0.337 AC XY: 25037 AN XY: 74318

Gnomad4 AFR AF: 0.367

Gnomad4 AMR AF: 0.331

Gnomad4 ASJ AF: 0.377

Gnomad4 EAS AF: 0.186

Gnomad4 SAS AF: 0.254

Gnomad4 FIN AF: 0.284

Gnomad4 NFE AF: 0.355

Gnomad4 OTH AF: 0.359

Alfa AF: 0.346 Hom.: 4634

Bravo AF: 0.349

Asia WGS AF: 0.249 AC: 870 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
Cadd	Benign	0.39
Dann	Benign	0.91

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs368911; hg19: chr11-37089769;