8-95888274-T-C

Variant names:

• chr8-95888274-T-C
• rs2319361

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;