8-34392333-C-T

Variant names:

• chr8-34392333-C-T
• rs2719307

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 0.49 in 151,874 control chromosomes in the GnomAD database, including 21,253 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 0.49 (21253 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.177
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.626 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: 0.490 AC: 74352 AN: 151756 Hom.: 21258 Cov.: 31

Gnomad AFR AF: 0.173

Gnomad AMI AF: 0.622

Gnomad AMR AF: 0.532

Gnomad ASJ AF: 0.656

Gnomad EAS AF: 0.570

Gnomad SAS AF: 0.494

Gnomad FIN AF: 0.646

Gnomad MID AF: 0.573

Gnomad NFE AF: 0.631

Gnomad OTH AF: 0.508

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

GnomAD4 genome AF: 0.490 AC: 74351 AN: 151874 Hom.: 21253 Cov.: 31 AF XY: 0.491 AC XY: 36464 AN XY: 74208

African (AFR) AF: 0.173 AC: 7177 AN: 41448

American (AMR) AF: 0.532 AC: 8099 AN: 15228

Ashkenazi Jewish (ASJ) AF: 0.656 AC: 2278 AN: 3472

East Asian (EAS) AF: 0.570 AC: 2926 AN: 5132

South Asian (SAS) AF: 0.493 AC: 2378 AN: 4820

European-Finnish (FIN) AF: 0.646 AC: 6819 AN: 10550

Middle Eastern (MID) AF: 0.568 AC: 166 AN: 292

European-Non Finnish (NFE) AF: 0.631 AC: 42874 AN: 67912

Other (OTH) AF: 0.506 AC: 1069 AN: 2112

Alfa AF: 0.548 Hom.: 4416

Bravo AF: 0.471

Asia WGS AF: 0.506 AC: 1758 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	5.9
DANN	Benign	0.63
PhyloP100		0.18

Splicing

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

Other links and lift over

dbSNP: rs2719307; hg19: chr8-34249851;