8-23863584-T-C

Position:

• chr8-23863584-T-C

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 152,054 control chromosomes in the GnomAD database, including 18,860 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 (18860 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.753

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.546 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.490 AC: 74372 AN: 151934 Hom.: 18844 Cov.: 32

Gnomad AFR AF: 0.552

Gnomad AMI AF: 0.447

Gnomad AMR AF: 0.399

Gnomad ASJ AF: 0.410

Gnomad EAS AF: 0.301

Gnomad SAS AF: 0.162

Gnomad FIN AF: 0.561

Gnomad MID AF: 0.421

Gnomad NFE AF: 0.504

Gnomad OTH AF: 0.481

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

GnomAD4 genome AF: 0.490 AC: 74445 AN: 152054 Hom.: 18860 Cov.: 32 AF XY: 0.485 AC XY: 36089 AN XY: 74354

Gnomad4 AFR AF: 0.552

Gnomad4 AMR AF: 0.399

Gnomad4 ASJ AF: 0.410

Gnomad4 EAS AF: 0.301

Gnomad4 SAS AF: 0.162

Gnomad4 FIN AF: 0.561

Gnomad4 NFE AF: 0.504

Gnomad4 OTH AF: 0.477

Alfa AF: 0.456 Hom.: 7137

Bravo AF: 0.485

Asia WGS AF: 0.267 AC: 929 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	7.7
DANN	Benign	0.88

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1436148; hg19: chr8-23721097;