8-93176690-T-G

Variant names:

• chr8-93176690-T-G
• rs278600

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 0.833 in 152,158 control chromosomes in the GnomAD database, including 52,985 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 0.83 (52985 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.996
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.975 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.833 AC: 126719 AN: 152040 Hom.: 52947 Cov.: 33

Gnomad AFR AF: 0.814

Gnomad AMI AF: 0.716

Gnomad AMR AF: 0.845

Gnomad ASJ AF: 0.854

Gnomad EAS AF: 0.997

Gnomad SAS AF: 0.895

Gnomad FIN AF: 0.860

Gnomad MID AF: 0.750

Gnomad NFE AF: 0.824

Gnomad OTH AF: 0.807

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

GnomAD4 genome AF: 0.833 AC: 126810 AN: 152158 Hom.: 52985 Cov.: 33 AF XY: 0.837 AC XY: 62244 AN XY: 74396

African (AFR) AF: 0.813 AC: 33743 AN: 41500

American (AMR) AF: 0.845 AC: 12918 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.854 AC: 2961 AN: 3468

East Asian (EAS) AF: 0.997 AC: 5143 AN: 5156

South Asian (SAS) AF: 0.896 AC: 4322 AN: 4824

European-Finnish (FIN) AF: 0.860 AC: 9105 AN: 10592

Middle Eastern (MID) AF: 0.752 AC: 221 AN: 294

European-Non Finnish (NFE) AF: 0.824 AC: 56033 AN: 68008

Other (OTH) AF: 0.809 AC: 1711 AN: 2116

Alfa AF: 0.820 Hom.: 8739

Bravo AF: 0.830

Asia WGS AF: 0.943 AC: 3280 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.1
DANN	Benign	0.71
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs278600; hg19: chr8-94188919;