8-20235632-A-G

Variant names:

• chr8-20235632-A-G
• rs11204102

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 0.35 in 151,968 control chromosomes in the GnomAD database, including 9,627 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 0.35 (9627 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.69
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.413 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: 0.350 AC: 53178 AN: 151850 Hom.: 9628 Cov.: 32

Gnomad AFR AF: 0.418

Gnomad AMI AF: 0.143

Gnomad AMR AF: 0.375

Gnomad ASJ AF: 0.338

Gnomad EAS AF: 0.261

Gnomad SAS AF: 0.341

Gnomad FIN AF: 0.224

Gnomad MID AF: 0.404

Gnomad NFE AF: 0.333

Gnomad OTH AF: 0.380

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

GnomAD4 genome AF: 0.350 AC: 53215 AN: 151968 Hom.: 9627 Cov.: 32 AF XY: 0.346 AC XY: 25695 AN XY: 74266

African (AFR) AF: 0.418 AC: 17304 AN: 41424

American (AMR) AF: 0.375 AC: 5731 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.338 AC: 1172 AN: 3464

East Asian (EAS) AF: 0.260 AC: 1341 AN: 5150

South Asian (SAS) AF: 0.340 AC: 1635 AN: 4812

European-Finnish (FIN) AF: 0.224 AC: 2376 AN: 10598

Middle Eastern (MID) AF: 0.397 AC: 116 AN: 292

European-Non Finnish (NFE) AF: 0.333 AC: 22615 AN: 67940

Other (OTH) AF: 0.377 AC: 795 AN: 2106

Alfa AF: 0.310 Hom.: 2946

Bravo AF: 0.364

Asia WGS AF: 0.294 AC: 1024 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.0
DANN	Benign	0.32
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs11204102; hg19: chr8-20093143;