8-95888274-T-C

Position:

• chr8-95888274-T-C

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 0.869 in 152,046 control chromosomes in the GnomAD database, including 57,517 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 0.87 (57517 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.425

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.972 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.869 AC: 132012 AN: 151930 Hom.: 57477 Cov.: 30

Gnomad AFR AF: 0.860

Gnomad AMI AF: 0.757

Gnomad AMR AF: 0.907

Gnomad ASJ AF: 0.829

Gnomad EAS AF: 0.994

Gnomad SAS AF: 0.919

Gnomad FIN AF: 0.862

Gnomad MID AF: 0.911

Gnomad NFE AF: 0.857

Gnomad OTH AF: 0.870

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

GnomAD4 genome AF: 0.869 AC: 132104 AN: 152046 Hom.: 57517 Cov.: 30 AF XY: 0.872 AC XY: 64780 AN XY: 74322

Gnomad4 AFR AF: 0.860

Gnomad4 AMR AF: 0.907

Gnomad4 ASJ AF: 0.829

Gnomad4 EAS AF: 0.994

Gnomad4 SAS AF: 0.918

Gnomad4 FIN AF: 0.862

Gnomad4 NFE AF: 0.857

Gnomad4 OTH AF: 0.872

Alfa AF: 0.860 Hom.: 51635

Bravo AF: 0.871

Asia WGS AF: 0.952 AC: 3309 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.83
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2319361; hg19: chr8-96900502;