chr11-127183122-A-G

Variant names:

• chr11-127183122-A-G
• rs1944819

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 0.535 in 152,024 control chromosomes in the GnomAD database, including 22,312 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 0.53 (22312 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.331
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.562 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.535 AC: 81230 AN: 151904 Hom.: 22296 Cov.: 32

Gnomad AFR AF: 0.560

Gnomad AMI AF: 0.501

Gnomad AMR AF: 0.496

Gnomad ASJ AF: 0.647

Gnomad EAS AF: 0.154

Gnomad SAS AF: 0.510

Gnomad FIN AF: 0.435

Gnomad MID AF: 0.677

Gnomad NFE AF: 0.567

Gnomad OTH AF: 0.583

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

GnomAD4 genome AF: 0.535 AC: 81278 AN: 152024 Hom.: 22312 Cov.: 32 AF XY: 0.525 AC XY: 38987 AN XY: 74304

African (AFR) AF: 0.559 AC: 23201 AN: 41472

American (AMR) AF: 0.497 AC: 7579 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.647 AC: 2246 AN: 3470

East Asian (EAS) AF: 0.155 AC: 800 AN: 5166

South Asian (SAS) AF: 0.509 AC: 2446 AN: 4810

European-Finnish (FIN) AF: 0.435 AC: 4600 AN: 10564

Middle Eastern (MID) AF: 0.684 AC: 201 AN: 294

European-Non Finnish (NFE) AF: 0.567 AC: 38537 AN: 67966

Other (OTH) AF: 0.575 AC: 1213 AN: 2110

Alfa AF: 0.543 Hom.: 3341

Bravo AF: 0.537

Asia WGS AF: 0.358 AC: 1247 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	6.8
DANN	Benign	0.66
PhyloP100		0.33

Splicing

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

Other links and lift over

dbSNP: rs1944819; hg19: chr11-127053017;