8-93176690-T-G

Variant names:

• chr8-93176690-T-G
• rs278600

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.833 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

Gnomad4 AFR AF: 0.813

Gnomad4 AMR AF: 0.845

Gnomad4 ASJ AF: 0.854

Gnomad4 EAS AF: 0.997

Gnomad4 SAS AF: 0.896

Gnomad4 FIN AF: 0.860

Gnomad4 NFE AF: 0.824

Gnomad4 OTH AF: 0.809

Alfa AF: 0.820 Hom.: 8477

Bravo AF: 0.830

Asia WGS AF: 0.943 AC: 3280 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs278600; hg19: chr8-94188919;