8-23583436-C-T

Variant names:

• chr8-23583436-C-T
• rs7009914

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 0.629 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
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• 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

African (AFR) AF: 0.737 AC: 30575 AN: 41480

American (AMR) AF: 0.661 AC: 10104 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.513 AC: 1780 AN: 3470

East Asian (EAS) AF: 0.857 AC: 4426 AN: 5166

South Asian (SAS) AF: 0.531 AC: 2559 AN: 4818

European-Finnish (FIN) AF: 0.676 AC: 7137 AN: 10562

Middle Eastern (MID) AF: 0.555 AC: 162 AN: 292

European-Non Finnish (NFE) AF: 0.546 AC: 37107 AN: 67982

Other (OTH) AF: 0.598 AC: 1264 AN: 2112

Alfa AF: 0.569 Hom.: 10649

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
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs7009914; hg19: chr8-23440949;