8-97750393-T-G

Variant names:

• chr8-97750393-T-G
• rs2449517

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 0.542 in 152,048 control chromosomes in the GnomAD database, including 24,857 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 0.54 (24857 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.461
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.802 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: 0.542 AC: 82355 AN: 151930 Hom.: 24797 Cov.: 33

Gnomad AFR AF: 0.809

Gnomad AMI AF: 0.433

Gnomad AMR AF: 0.513

Gnomad ASJ AF: 0.466

Gnomad EAS AF: 0.656

Gnomad SAS AF: 0.577

Gnomad FIN AF: 0.389

Gnomad MID AF: 0.563

Gnomad NFE AF: 0.405

Gnomad OTH AF: 0.513

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

GnomAD4 genome AF: 0.542 AC: 82476 AN: 152048 Hom.: 24857 Cov.: 33 AF XY: 0.543 AC XY: 40323 AN XY: 74282

African (AFR) AF: 0.809 AC: 33606 AN: 41528

American (AMR) AF: 0.513 AC: 7823 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.466 AC: 1617 AN: 3470

East Asian (EAS) AF: 0.657 AC: 3396 AN: 5172

South Asian (SAS) AF: 0.576 AC: 2776 AN: 4818

European-Finnish (FIN) AF: 0.389 AC: 4096 AN: 10530

Middle Eastern (MID) AF: 0.575 AC: 169 AN: 294

European-Non Finnish (NFE) AF: 0.405 AC: 27505 AN: 67960

Other (OTH) AF: 0.518 AC: 1095 AN: 2114

Alfa AF: 0.494 Hom.: 3502

Bravo AF: 0.560

Asia WGS AF: 0.629 AC: 2189 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	8.7
DANN	Benign	0.58
PhyloP100		0.46

Splicing

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

Other links and lift over

dbSNP: rs2449517; hg19: chr8-98762621;