8-127576577-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 0.75 in 152,064 control chromosomes in the GnomAD database, including 43,226 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 0.75 (43226 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.83

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.851 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: 0.750 AC: 113979 AN: 151946 Hom.: 43206 Cov.: 32

Gnomad AFR AF: 0.859

Gnomad AMI AF: 0.831

Gnomad AMR AF: 0.692

Gnomad ASJ AF: 0.712

Gnomad EAS AF: 0.831

Gnomad SAS AF: 0.662

Gnomad FIN AF: 0.696

Gnomad MID AF: 0.820

Gnomad NFE AF: 0.706

Gnomad OTH AF: 0.763

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

GnomAD4 genome AF: 0.750 AC: 114050 AN: 152064 Hom.: 43226 Cov.: 32 AF XY: 0.750 AC XY: 55712 AN XY: 74326

Gnomad4 AFR AF: 0.859

Gnomad4 AMR AF: 0.692

Gnomad4 ASJ AF: 0.712

Gnomad4 EAS AF: 0.831

Gnomad4 SAS AF: 0.662

Gnomad4 FIN AF: 0.696

Gnomad4 NFE AF: 0.706

Gnomad4 OTH AF: 0.760

Alfa AF: 0.713 Hom.: 36507

Bravo AF: 0.762

Asia WGS AF: 0.700 AC: 2433 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
Cadd	Benign	0.16
Dann	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7824074; hg19: chr8-128588822;