8-127483114-T-C

Variant names:

• chr8-127483114-T-C
• rs1447296

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 0.875 in 152,184 control chromosomes in the GnomAD database, including 58,397 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 0.88 (58397 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.535

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.905 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: 0.875 AC: 133099 AN: 152066 Hom.: 58362 Cov.: 32

Gnomad AFR AF: 0.833

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.919

Gnomad ASJ AF: 0.939

Gnomad EAS AF: 0.844

Gnomad SAS AF: 0.869

Gnomad FIN AF: 0.825

Gnomad MID AF: 0.940

Gnomad NFE AF: 0.898

Gnomad OTH AF: 0.889

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

GnomAD4 genome AF: 0.875 AC: 133187 AN: 152184 Hom.: 58397 Cov.: 32 AF XY: 0.873 AC XY: 64927 AN XY: 74394

Gnomad4 AFR AF: 0.833

Gnomad4 AMR AF: 0.918

Gnomad4 ASJ AF: 0.939

Gnomad4 EAS AF: 0.844

Gnomad4 SAS AF: 0.870

Gnomad4 FIN AF: 0.825

Gnomad4 NFE AF: 0.898

Gnomad4 OTH AF: 0.884

Alfa AF: 0.883 Hom.: 17498

Bravo AF: 0.878

Asia WGS AF: 0.803 AC: 2795 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.5
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1447296; hg19: chr8-128495359;