8-95888274-T-C

Variant names:

• chr8-95888274-T-C
• rs2319361

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 0.869 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
• Publications: 2 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 (EAS) allele frequency at 95% confidence interval = 0.972 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: 0.869 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

African (AFR) AF: 0.860 AC: 35620 AN: 41436

American (AMR) AF: 0.907 AC: 13858 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.829 AC: 2877 AN: 3470

East Asian (EAS) AF: 0.994 AC: 5151 AN: 5180

South Asian (SAS) AF: 0.918 AC: 4423 AN: 4816

European-Finnish (FIN) AF: 0.862 AC: 9102 AN: 10560

Middle Eastern (MID) AF: 0.908 AC: 265 AN: 292

European-Non Finnish (NFE) AF: 0.857 AC: 58279 AN: 67998

Other (OTH) AF: 0.872 AC: 1840 AN: 2110

Alfa AF: 0.863 Hom.: 78246

Bravo AF: 0.871

Asia WGS AF: 0.952 AC: 3309 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.83
DANN	Benign	0.57
PhyloP100		-0.42

Splicing

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

Other links and lift over

dbSNP: rs2319361; hg19: chr8-96900502;