chr8-110820376-T-A

Variant names:

• chr8-110820376-T-A
• rs7818667

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 0.835 in 152,176 control chromosomes in the GnomAD database, including 54,091 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 0.84 (54091 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.524
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.934 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: 0.835 AC: 127032 AN: 152058 Hom.: 54033 Cov.: 33

Gnomad AFR AF: 0.942

Gnomad AMI AF: 0.945

Gnomad AMR AF: 0.714

Gnomad ASJ AF: 0.817

Gnomad EAS AF: 0.416

Gnomad SAS AF: 0.630

Gnomad FIN AF: 0.851

Gnomad MID AF: 0.823

Gnomad NFE AF: 0.842

Gnomad OTH AF: 0.831

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

GnomAD4 genome AF: 0.836 AC: 127143 AN: 152176 Hom.: 54091 Cov.: 33 AF XY: 0.826 AC XY: 61483 AN XY: 74406

African (AFR) AF: 0.942 AC: 39132 AN: 41550

American (AMR) AF: 0.713 AC: 10902 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.817 AC: 2835 AN: 3470

East Asian (EAS) AF: 0.415 AC: 2142 AN: 5160

South Asian (SAS) AF: 0.632 AC: 3045 AN: 4820

European-Finnish (FIN) AF: 0.851 AC: 9016 AN: 10592

Middle Eastern (MID) AF: 0.833 AC: 245 AN: 294

European-Non Finnish (NFE) AF: 0.842 AC: 57217 AN: 67982

Other (OTH) AF: 0.826 AC: 1747 AN: 2114

Alfa AF: 0.836 Hom.: 6638

Bravo AF: 0.832

Asia WGS AF: 0.543 AC: 1878 AN: 3452

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.76
DANN	Benign	0.67
PhyloP100		-0.52

Splicing

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

Other links and lift over

dbSNP: rs7818667; hg19: chr8-111832605;