8-11484361-G-T

Variant names:

• chr8-11484361-G-T
• rs2736336

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 0.267 in 151,780 control chromosomes in the GnomAD database, including 6,526 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 0.27 (6526 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.18
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.688 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.267 AC: 40456 AN: 151662 Hom.: 6507 Cov.: 32

Gnomad AFR AF: 0.171

Gnomad AMI AF: 0.186

Gnomad AMR AF: 0.446

Gnomad ASJ AF: 0.141

Gnomad EAS AF: 0.707

Gnomad SAS AF: 0.350

Gnomad FIN AF: 0.271

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.253

Gnomad OTH AF: 0.260

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

GnomAD4 genome AF: 0.267 AC: 40511 AN: 151780 Hom.: 6526 Cov.: 32 AF XY: 0.274 AC XY: 20321 AN XY: 74188

African (AFR) AF: 0.172 AC: 7115 AN: 41486

American (AMR) AF: 0.447 AC: 6802 AN: 15232

Ashkenazi Jewish (ASJ) AF: 0.141 AC: 488 AN: 3464

East Asian (EAS) AF: 0.707 AC: 3591 AN: 5076

South Asian (SAS) AF: 0.350 AC: 1682 AN: 4808

European-Finnish (FIN) AF: 0.271 AC: 2865 AN: 10558

Middle Eastern (MID) AF: 0.190 AC: 56 AN: 294

European-Non Finnish (NFE) AF: 0.253 AC: 17178 AN: 67860

Other (OTH) AF: 0.270 AC: 566 AN: 2098

Alfa AF: 0.123 Hom.: 194

Bravo AF: 0.285

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	1.6
DANN	Benign	0.81
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs2736336; hg19: chr8-11341870;