8-127527115-T-G

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 0.908 in 152,220 control chromosomes in the GnomAD database, including 62,798 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 0.91 (62798 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.175

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 (AFR) allele frequency at 95% confidence interval = 0.933 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: 0.908 AC: 138061 AN: 152102 Hom.: 62750 Cov.: 32

Gnomad AFR AF: 0.941

Gnomad AMI AF: 0.902

Gnomad AMR AF: 0.926

Gnomad ASJ AF: 0.940

Gnomad EAS AF: 0.853

Gnomad SAS AF: 0.859

Gnomad FIN AF: 0.836

Gnomad MID AF: 0.955

Gnomad NFE AF: 0.900

Gnomad OTH AF: 0.919

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

GnomAD4 genome AF: 0.908 AC: 138169 AN: 152220 Hom.: 62798 Cov.: 32 AF XY: 0.905 AC XY: 67356 AN XY: 74410

Gnomad4 AFR AF: 0.941

Gnomad4 AMR AF: 0.926

Gnomad4 ASJ AF: 0.940

Gnomad4 EAS AF: 0.853

Gnomad4 SAS AF: 0.859

Gnomad4 FIN AF: 0.836

Gnomad4 NFE AF: 0.900

Gnomad4 OTH AF: 0.916

Alfa AF: 0.900 Hom.: 95217

Bravo AF: 0.916

Asia WGS AF: 0.835 AC: 2905 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	2.2
Dann	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7837688; hg19: chr8-128539360;