8-67863582-T-C

Variant names:

• chr8-67863582-T-C
• rs4535726

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 0.814 in 152,016 control chromosomes in the GnomAD database, including 51,198 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 0.81 (51198 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0770
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.928 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.814 AC: 123622 AN: 151898 Hom.: 51143 Cov.: 30

Gnomad AFR AF: 0.936

Gnomad AMI AF: 0.765

Gnomad AMR AF: 0.707

Gnomad ASJ AF: 0.776

Gnomad EAS AF: 0.431

Gnomad SAS AF: 0.750

Gnomad FIN AF: 0.788

Gnomad MID AF: 0.785

Gnomad NFE AF: 0.804

Gnomad OTH AF: 0.799

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

GnomAD4 genome AF: 0.814 AC: 123724 AN: 152016 Hom.: 51198 Cov.: 30 AF XY: 0.809 AC XY: 60091 AN XY: 74284

African (AFR) AF: 0.936 AC: 38852 AN: 41506

American (AMR) AF: 0.706 AC: 10775 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.776 AC: 2694 AN: 3472

East Asian (EAS) AF: 0.430 AC: 2213 AN: 5144

South Asian (SAS) AF: 0.750 AC: 3608 AN: 4812

European-Finnish (FIN) AF: 0.788 AC: 8307 AN: 10546

Middle Eastern (MID) AF: 0.786 AC: 231 AN: 294

European-Non Finnish (NFE) AF: 0.804 AC: 54661 AN: 67966

Other (OTH) AF: 0.798 AC: 1687 AN: 2114

Alfa AF: 0.805 Hom.: 95929

Bravo AF: 0.810

Asia WGS AF: 0.628 AC: 2186 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	3.2
DANN	Benign	0.41
PhyloP100		0.077

Splicing

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

Other links and lift over

dbSNP: rs4535726; hg19: chr8-68775817; COSMIC: COSV70155874;