rs2736338

Variant names:

• chr8-11484374-A-C
• rs2736338

Your query was ambiguous. Multiple possible variants found:

• chr8-11484374-A-C
• chr8-11484374-A-G
• chr8-11484374-A-T

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 151,836 control chromosomes in the GnomAD database, including 6,528 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 (6528 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.294
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.689 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.267 AC: 40457 AN: 151718 Hom.: 6509 Cov.: 32

Gnomad AFR AF: 0.170

Gnomad AMI AF: 0.188

Gnomad AMR AF: 0.446

Gnomad ASJ AF: 0.143

Gnomad EAS AF: 0.708

Gnomad SAS AF: 0.351

Gnomad FIN AF: 0.271

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.253

Gnomad OTH AF: 0.259

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

GnomAD4 genome AF: 0.267 AC: 40509 AN: 151836 Hom.: 6528 Cov.: 32 AF XY: 0.274 AC XY: 20322 AN XY: 74230

African (AFR) AF: 0.170 AC: 7061 AN: 41482

American (AMR) AF: 0.447 AC: 6802 AN: 15234

Ashkenazi Jewish (ASJ) AF: 0.143 AC: 496 AN: 3464

East Asian (EAS) AF: 0.709 AC: 3602 AN: 5082

South Asian (SAS) AF: 0.350 AC: 1687 AN: 4814

European-Finnish (FIN) AF: 0.271 AC: 2862 AN: 10560

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

European-Non Finnish (NFE) AF: 0.253 AC: 17206 AN: 67894

Other (OTH) AF: 0.269 AC: 567 AN: 2106

Alfa AF: 0.122 Hom.: 192

Bravo AF: 0.284

Asia WGS AF: 0.539 AC: 1872 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.4
DANN	Benign	0.74
PhyloP100		-0.29

Splicing

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

Other links and lift over

dbSNP: rs2736338; hg19: chr8-11341883;