8-34392333-C-T

Variant names:

• chr8-34392333-C-T
• rs2719307

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.173

Gnomad4 AMR AF: 0.532

Gnomad4 ASJ AF: 0.656

Gnomad4 EAS AF: 0.570

Gnomad4 SAS AF: 0.493

Gnomad4 FIN AF: 0.646

Gnomad4 NFE AF: 0.631

Gnomad4 OTH AF: 0.506

Alfa AF: 0.558 Hom.: 4395

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2719307; hg19: chr8-34249851;