rs1296028

Variant names:

• chr8-11841238-A-G
• rs1296028

Your query was ambiguous. Multiple possible variants found:

• chr8-11841238-A-G
• chr8-11841238-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 0.197 in 152,072 control chromosomes in the GnomAD database, including 3,353 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 0.20 (3353 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0520
• Publications: 37 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.261 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: 0.197 AC: 29952 AN: 151954 Hom.: 3350 Cov.: 32

Gnomad AFR AF: 0.112

Gnomad AMI AF: 0.195

Gnomad AMR AF: 0.167

Gnomad ASJ AF: 0.300

Gnomad EAS AF: 0.0636

Gnomad SAS AF: 0.171

Gnomad FIN AF: 0.176

Gnomad MID AF: 0.275

Gnomad NFE AF: 0.265

Gnomad OTH AF: 0.223

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

GnomAD4 genome AF: 0.197 AC: 29964 AN: 152072 Hom.: 3353 Cov.: 32 AF XY: 0.192 AC XY: 14298 AN XY: 74350

African (AFR) AF: 0.112 AC: 4642 AN: 41474

American (AMR) AF: 0.167 AC: 2555 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.300 AC: 1039 AN: 3466

East Asian (EAS) AF: 0.0637 AC: 329 AN: 5164

South Asian (SAS) AF: 0.173 AC: 830 AN: 4808

European-Finnish (FIN) AF: 0.176 AC: 1863 AN: 10562

Middle Eastern (MID) AF: 0.286 AC: 84 AN: 294

European-Non Finnish (NFE) AF: 0.264 AC: 17980 AN: 67988

Other (OTH) AF: 0.220 AC: 464 AN: 2112

Alfa AF: 0.250 Hom.: 16304

Bravo AF: 0.192

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	2.5
DANN	Benign	0.68
PhyloP100		-0.052

Splicing

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

Other links and lift over

dbSNP: rs1296028; hg19: chr8-11698747;