chr11-57635491-T-G

Variant names:

• chr11-57635491-T-G
• rs1783826

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 0.664 in 151,810 control chromosomes in the GnomAD database, including 34,773 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 0.66 (34773 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0310
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.864 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: 0.664 AC: 100768 AN: 151694 Hom.: 34728 Cov.: 30

Gnomad AFR AF: 0.830

Gnomad AMI AF: 0.755

Gnomad AMR AF: 0.670

Gnomad ASJ AF: 0.671

Gnomad EAS AF: 0.886

Gnomad SAS AF: 0.668

Gnomad FIN AF: 0.615

Gnomad MID AF: 0.614

Gnomad NFE AF: 0.552

Gnomad OTH AF: 0.655

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

GnomAD4 genome AF: 0.664 AC: 100867 AN: 151810 Hom.: 34773 Cov.: 30 AF XY: 0.670 AC XY: 49729 AN XY: 74184

African (AFR) AF: 0.830 AC: 34389 AN: 41442

American (AMR) AF: 0.670 AC: 10213 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.671 AC: 2324 AN: 3466

East Asian (EAS) AF: 0.886 AC: 4571 AN: 5160

South Asian (SAS) AF: 0.667 AC: 3204 AN: 4802

European-Finnish (FIN) AF: 0.615 AC: 6444 AN: 10486

Middle Eastern (MID) AF: 0.622 AC: 183 AN: 294

European-Non Finnish (NFE) AF: 0.552 AC: 37470 AN: 67900

Other (OTH) AF: 0.657 AC: 1382 AN: 2104

Alfa AF: 0.625 Hom.: 11754

Bravo AF: 0.677

Asia WGS AF: 0.788 AC: 2736 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.3
DANN	Benign	0.50
PhyloP100		-0.031

Splicing

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

Other links and lift over

dbSNP: rs1783826; hg19: chr11-57402964;