8-117770647-C-T

Variant names:

• chr8-117770647-C-T
• rs4876386

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 0.746 in 151,812 control chromosomes in the GnomAD database, including 42,529 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 0.75 (42529 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.103
• Publications: 1 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 (AFR) allele frequency at 95% confidence interval = 0.808 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.746 AC: 113149 AN: 151694 Hom.: 42482 Cov.: 30

Gnomad AFR AF: 0.815

Gnomad AMI AF: 0.694

Gnomad AMR AF: 0.672

Gnomad ASJ AF: 0.662

Gnomad EAS AF: 0.788

Gnomad SAS AF: 0.765

Gnomad FIN AF: 0.804

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.715

Gnomad OTH AF: 0.676

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

GnomAD4 genome AF: 0.746 AC: 113251 AN: 151812 Hom.: 42529 Cov.: 30 AF XY: 0.750 AC XY: 55626 AN XY: 74198

African (AFR) AF: 0.815 AC: 33770 AN: 41418

American (AMR) AF: 0.672 AC: 10253 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.662 AC: 2297 AN: 3468

East Asian (EAS) AF: 0.789 AC: 4069 AN: 5154

South Asian (SAS) AF: 0.764 AC: 3668 AN: 4802

European-Finnish (FIN) AF: 0.804 AC: 8431 AN: 10488

Middle Eastern (MID) AF: 0.595 AC: 175 AN: 294

European-Non Finnish (NFE) AF: 0.714 AC: 48533 AN: 67926

Other (OTH) AF: 0.677 AC: 1425 AN: 2106

Alfa AF: 0.745 Hom.: 5497

Bravo AF: 0.737

Asia WGS AF: 0.765 AC: 2639 AN: 3448

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.6
DANN	Benign	0.24
PhyloP100		-0.10

Splicing

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

Other links and lift over

dbSNP: rs4876386; hg19: chr8-118782886;