chr8-11486171-A-G

Position:

• chr8-11486171-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.831 in 151,962 control chromosomes in the GnomAD database, including 52,673 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 0.83 (52673 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.511

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.857 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.831 AC: 126156 AN: 151844 Hom.: 52618 Cov.: 31

Gnomad AFR AF: 0.861

Gnomad AMI AF: 0.674

Gnomad AMR AF: 0.870

Gnomad ASJ AF: 0.833

Gnomad EAS AF: 0.742

Gnomad SAS AF: 0.796

Gnomad FIN AF: 0.691

Gnomad MID AF: 0.854

Gnomad NFE AF: 0.837

Gnomad OTH AF: 0.824

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

GnomAD4 genome AF: 0.831 AC: 126269 AN: 151962 Hom.: 52673 Cov.: 31 AF XY: 0.823 AC XY: 61162 AN XY: 74276

Gnomad4 AFR AF: 0.861

Gnomad4 AMR AF: 0.870

Gnomad4 ASJ AF: 0.833

Gnomad4 EAS AF: 0.742

Gnomad4 SAS AF: 0.796

Gnomad4 FIN AF: 0.691

Gnomad4 NFE AF: 0.837

Gnomad4 OTH AF: 0.827

Alfa AF: 0.838 Hom.: 63075

Bravo AF: 0.846

Asia WGS AF: 0.805 AC: 2798 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.9
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2254546; hg19: chr8-11343680;