11-37068219-G-A

Variant names:

• chr11-37068219-G-A
• rs368911

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 0.343 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
• 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 = 0.362 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: 0.343 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

African (AFR) AF: 0.367 AC: 15215 AN: 41466

American (AMR) AF: 0.331 AC: 5060 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.377 AC: 1306 AN: 3466

East Asian (EAS) AF: 0.186 AC: 961 AN: 5172

South Asian (SAS) AF: 0.254 AC: 1224 AN: 4816

European-Finnish (FIN) AF: 0.284 AC: 3000 AN: 10580

Middle Eastern (MID) AF: 0.374 AC: 110 AN: 294

European-Non Finnish (NFE) AF: 0.355 AC: 24150 AN: 67964

Other (OTH) AF: 0.359 AC: 756 AN: 2108

Alfa AF: 0.347 Hom.: 5162

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
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs368911; hg19: chr11-37089769;