8-23863584-T-C

Variant names:

• chr8-23863584-T-C
• rs1436148

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;