8-11589291-C-T

Variant names:

• chr8-11589291-C-T
• rs11774572

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 0.461 in 151,986 control chromosomes in the GnomAD database, including 17,469 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 0.46 (17469 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.487
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.569 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.461 AC: 69952 AN: 151868 Hom.: 17461 Cov.: 32

Gnomad AFR AF: 0.366

Gnomad AMI AF: 0.375

Gnomad AMR AF: 0.371

Gnomad ASJ AF: 0.642

Gnomad EAS AF: 0.0325

Gnomad SAS AF: 0.384

Gnomad FIN AF: 0.410

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.574

Gnomad OTH AF: 0.487

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

GnomAD4 genome AF: 0.461 AC: 69995 AN: 151986 Hom.: 17469 Cov.: 32 AF XY: 0.448 AC XY: 33305 AN XY: 74302

African (AFR) AF: 0.367 AC: 15194 AN: 41428

American (AMR) AF: 0.371 AC: 5655 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.642 AC: 2228 AN: 3470

East Asian (EAS) AF: 0.0326 AC: 169 AN: 5182

South Asian (SAS) AF: 0.386 AC: 1861 AN: 4818

European-Finnish (FIN) AF: 0.410 AC: 4328 AN: 10564

Middle Eastern (MID) AF: 0.605 AC: 178 AN: 294

European-Non Finnish (NFE) AF: 0.574 AC: 39022 AN: 67962

Other (OTH) AF: 0.482 AC: 1018 AN: 2112

Alfa AF: 0.524 Hom.: 2692

Bravo AF: 0.449

Asia WGS AF: 0.225 AC: 785 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	1.2
DANN	Benign	0.30
PhyloP100		-0.49

Splicing

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

Other links and lift over

dbSNP: rs11774572; hg19: chr8-11446800;