chr8-8596652-C-T

Variant names:

• chr8-8596652-C-T
• rs13269433

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 0.123 in 151,216 control chromosomes in the GnomAD database, including 1,571 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 0.12 (1571 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.18
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.181 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: 0.123 AC: 18574 AN: 151106 Hom.: 1572 Cov.: 27

Gnomad AFR AF: 0.0337

Gnomad AMI AF: 0.192

Gnomad AMR AF: 0.130

Gnomad ASJ AF: 0.275

Gnomad EAS AF: 0.00136

Gnomad SAS AF: 0.0829

Gnomad FIN AF: 0.0869

Gnomad MID AF: 0.165

Gnomad NFE AF: 0.184

Gnomad OTH AF: 0.142

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

GnomAD4 genome AF: 0.123 AC: 18560 AN: 151216 Hom.: 1571 Cov.: 27 AF XY: 0.117 AC XY: 8619 AN XY: 73820

African (AFR) AF: 0.0336 AC: 1384 AN: 41250

American (AMR) AF: 0.130 AC: 1969 AN: 15174

Ashkenazi Jewish (ASJ) AF: 0.275 AC: 954 AN: 3464

East Asian (EAS) AF: 0.00137 AC: 7 AN: 5122

South Asian (SAS) AF: 0.0818 AC: 390 AN: 4770

European-Finnish (FIN) AF: 0.0869 AC: 900 AN: 10362

Middle Eastern (MID) AF: 0.168 AC: 49 AN: 292

European-Non Finnish (NFE) AF: 0.184 AC: 12440 AN: 67784

Other (OTH) AF: 0.140 AC: 293 AN: 2090

Alfa AF: 0.141 Hom.: 288

Bravo AF: 0.123

Asia WGS AF: 0.0400 AC: 142 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.57
DANN	Benign	0.35
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs13269433; hg19: chr8-8454162;