8-127526579-A-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 152,184 control chromosomes in the GnomAD database, including 62,796 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 (62796 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.16

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• 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: 138043 AN: 152066 Hom.: 62749 Cov.: 31

Gnomad AFR AF: 0.941

Gnomad AMI AF: 0.902

Gnomad AMR AF: 0.926

Gnomad ASJ AF: 0.940

Gnomad EAS AF: 0.854

Gnomad SAS AF: 0.860

Gnomad FIN AF: 0.836

Gnomad MID AF: 0.956

Gnomad NFE AF: 0.900

Gnomad OTH AF: 0.918

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

GnomAD4 genome AF: 0.908 AC: 138147 AN: 152184 Hom.: 62796 Cov.: 31 AF XY: 0.905 AC XY: 67354 AN XY: 74392

Gnomad4 AFR AF: 0.941

Gnomad4 AMR AF: 0.926

Gnomad4 ASJ AF: 0.940

Gnomad4 EAS AF: 0.854

Gnomad4 SAS AF: 0.860

Gnomad4 FIN AF: 0.836

Gnomad4 NFE AF: 0.900

Gnomad4 OTH AF: 0.914

Alfa AF: 0.854 Hom.: 3765

Bravo AF: 0.915

Asia WGS AF: 0.825 AC: 2873 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
Cadd	Benign	0.053
Dann	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8180905; hg19: chr8-128538824;