8-115067211-A-G

Position:

• chr8-115067211-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 0.369 in 151,882 control chromosomes in the GnomAD database, including 12,327 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 0.37 (12327 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.529

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.781 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: 0.368 AC: 55894 AN: 151764 Hom.: 12298 Cov.: 31

Gnomad AFR AF: 0.546

Gnomad AMI AF: 0.112

Gnomad AMR AF: 0.422

Gnomad ASJ AF: 0.323

Gnomad EAS AF: 0.802

Gnomad SAS AF: 0.454

Gnomad FIN AF: 0.228

Gnomad MID AF: 0.204

Gnomad NFE AF: 0.238

Gnomad OTH AF: 0.354

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

GnomAD4 genome AF: 0.369 AC: 55981 AN: 151882 Hom.: 12327 Cov.: 31 AF XY: 0.375 AC XY: 27807 AN XY: 74240

Gnomad4 AFR AF: 0.546

Gnomad4 AMR AF: 0.423

Gnomad4 ASJ AF: 0.323

Gnomad4 EAS AF: 0.802

Gnomad4 SAS AF: 0.455

Gnomad4 FIN AF: 0.228

Gnomad4 NFE AF: 0.238

Gnomad4 OTH AF: 0.354

Alfa AF: 0.269 Hom.: 1979

Bravo AF: 0.394

Asia WGS AF: 0.611 AC: 2121 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.4
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: rs1353277; hg19: chr8-116079440;