rs2247792

Variant names:

• chr8-96137817-T-C
• rs2247792

Your query was ambiguous. Multiple possible variants found:

• chr8-96137817-T-C
• chr8-96137817-T-G

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 0.408 in 151,764 control chromosomes in the GnomAD database, including 13,013 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 0.41 (13013 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.14
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.465 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: 0.408 AC: 61920 AN: 151646 Hom.: 13009 Cov.: 31

Gnomad AFR AF: 0.471

Gnomad AMI AF: 0.311

Gnomad AMR AF: 0.291

Gnomad ASJ AF: 0.375

Gnomad EAS AF: 0.227

Gnomad SAS AF: 0.407

Gnomad FIN AF: 0.399

Gnomad MID AF: 0.405

Gnomad NFE AF: 0.415

Gnomad OTH AF: 0.392

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

GnomAD4 genome AF: 0.408 AC: 61959 AN: 151764 Hom.: 13013 Cov.: 31 AF XY: 0.406 AC XY: 30073 AN XY: 74146

African (AFR) AF: 0.471 AC: 19479 AN: 41358

American (AMR) AF: 0.290 AC: 4432 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.375 AC: 1298 AN: 3462

East Asian (EAS) AF: 0.228 AC: 1173 AN: 5154

South Asian (SAS) AF: 0.407 AC: 1960 AN: 4812

European-Finnish (FIN) AF: 0.399 AC: 4172 AN: 10468

Middle Eastern (MID) AF: 0.418 AC: 123 AN: 294

European-Non Finnish (NFE) AF: 0.415 AC: 28222 AN: 67932

Other (OTH) AF: 0.388 AC: 816 AN: 2102

Alfa AF: 0.405 Hom.: 40195

Bravo AF: 0.399

Asia WGS AF: 0.301 AC: 1047 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.12
DANN	Benign	0.46
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs2247792; hg19: chr8-97150045;