chr8-11765727-A-G

Variant names:

• chr8-11765727-A-G
• rs17810889

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 0.285 in 152,214 control chromosomes in the GnomAD database, including 6,311 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 0.28 (6311 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.155
• Publications: 11 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 (AMR) allele frequency at 95% confidence interval = 0.304 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: 0.285 AC: 43275 AN: 152096 Hom.: 6303 Cov.: 33

Gnomad AFR AF: 0.244

Gnomad AMI AF: 0.329

Gnomad AMR AF: 0.311

Gnomad ASJ AF: 0.417

Gnomad EAS AF: 0.233

Gnomad SAS AF: 0.256

Gnomad FIN AF: 0.252

Gnomad MID AF: 0.364

Gnomad NFE AF: 0.306

Gnomad OTH AF: 0.321

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

GnomAD4 genome AF: 0.285 AC: 43323 AN: 152214 Hom.: 6311 Cov.: 33 AF XY: 0.282 AC XY: 21017 AN XY: 74432

African (AFR) AF: 0.244 AC: 10145 AN: 41526

American (AMR) AF: 0.311 AC: 4760 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.417 AC: 1446 AN: 3470

East Asian (EAS) AF: 0.233 AC: 1209 AN: 5180

South Asian (SAS) AF: 0.257 AC: 1240 AN: 4828

European-Finnish (FIN) AF: 0.252 AC: 2668 AN: 10602

Middle Eastern (MID) AF: 0.367 AC: 108 AN: 294

European-Non Finnish (NFE) AF: 0.306 AC: 20780 AN: 67990

Other (OTH) AF: 0.316 AC: 667 AN: 2112

Alfa AF: 0.230 Hom.: 825

Bravo AF: 0.288

Asia WGS AF: 0.290 AC: 1009 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.5
DANN	Benign	0.57
PhyloP100		-0.15

Splicing

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

Other links and lift over

dbSNP: rs17810889; hg19: chr8-11623236;