8-23583436-C-T

Variant names:

• chr8-23583436-C-T
• rs7009914

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 0.629 in 152,072 control chromosomes in the GnomAD database, including 31,030 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 0.63 (31030 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.160

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.836 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: 0.628 AC: 95483 AN: 151952 Hom.: 30988 Cov.: 32

Gnomad AFR AF: 0.737

Gnomad AMI AF: 0.521

Gnomad AMR AF: 0.661

Gnomad ASJ AF: 0.513

Gnomad EAS AF: 0.857

Gnomad SAS AF: 0.530

Gnomad FIN AF: 0.676

Gnomad MID AF: 0.548

Gnomad NFE AF: 0.546

Gnomad OTH AF: 0.596

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

GnomAD4 genome AF: 0.629 AC: 95589 AN: 152072 Hom.: 31030 Cov.: 32 AF XY: 0.636 AC XY: 47299 AN XY: 74346

Gnomad4 AFR AF: 0.737

Gnomad4 AMR AF: 0.661

Gnomad4 ASJ AF: 0.513

Gnomad4 EAS AF: 0.857

Gnomad4 SAS AF: 0.531

Gnomad4 FIN AF: 0.676

Gnomad4 NFE AF: 0.546

Gnomad4 OTH AF: 0.598

Alfa AF: 0.576 Hom.: 5702

Bravo AF: 0.635

Asia WGS AF: 0.707 AC: 2458 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.5
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7009914; hg19: chr8-23440949;