11-91791155-A-G

Variant names:

• chr11-91791155-A-G
• rs12291847

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 0.2 in 152,122 control chromosomes in the GnomAD database, including 3,819 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 0.20 (3819 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.270
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.352 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: 0.200 AC: 30418 AN: 152006 Hom.: 3805 Cov.: 32

Gnomad AFR AF: 0.357

Gnomad AMI AF: 0.0890

Gnomad AMR AF: 0.146

Gnomad ASJ AF: 0.132

Gnomad EAS AF: 0.0272

Gnomad SAS AF: 0.0851

Gnomad FIN AF: 0.146

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.152

Gnomad OTH AF: 0.189

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

GnomAD4 genome AF: 0.200 AC: 30464 AN: 152122 Hom.: 3819 Cov.: 32 AF XY: 0.195 AC XY: 14504 AN XY: 74366

African (AFR) AF: 0.357 AC: 14805 AN: 41460

American (AMR) AF: 0.146 AC: 2234 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.132 AC: 458 AN: 3470

East Asian (EAS) AF: 0.0267 AC: 138 AN: 5172

South Asian (SAS) AF: 0.0850 AC: 410 AN: 4826

European-Finnish (FIN) AF: 0.146 AC: 1542 AN: 10588

Middle Eastern (MID) AF: 0.112 AC: 33 AN: 294

European-Non Finnish (NFE) AF: 0.152 AC: 10370 AN: 68008

Other (OTH) AF: 0.186 AC: 393 AN: 2112

Alfa AF: 0.166 Hom.: 2139

Bravo AF: 0.210

Asia WGS AF: 0.0900 AC: 313 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.7
DANN	Benign	0.85
PhyloP100		0.27

Splicing

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

Other links and lift over

dbSNP: rs12291847; hg19: chr11-91524321;