8-70033364-A-G

Position:

• chr8-70033364-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 0.567 in 151,864 control chromosomes in the GnomAD database, including 24,893 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 0.57 (24893 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.946

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.751 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: 0.567 AC: 86041 AN: 151750 Hom.: 24860 Cov.: 32

Gnomad AFR AF: 0.660

Gnomad AMI AF: 0.503

Gnomad AMR AF: 0.509

Gnomad ASJ AF: 0.651

Gnomad EAS AF: 0.771

Gnomad SAS AF: 0.637

Gnomad FIN AF: 0.529

Gnomad MID AF: 0.623

Gnomad NFE AF: 0.505

Gnomad OTH AF: 0.556

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

GnomAD4 genome AF: 0.567 AC: 86129 AN: 151864 Hom.: 24893 Cov.: 32 AF XY: 0.567 AC XY: 42099 AN XY: 74184

Gnomad4 AFR AF: 0.660

Gnomad4 AMR AF: 0.509

Gnomad4 ASJ AF: 0.651

Gnomad4 EAS AF: 0.771

Gnomad4 SAS AF: 0.639

Gnomad4 FIN AF: 0.529

Gnomad4 NFE AF: 0.505

Gnomad4 OTH AF: 0.558

Alfa AF: 0.510 Hom.: 8190

Bravo AF: 0.565

Asia WGS AF: 0.710 AC: 2464 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	8.0
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: rs6993479; hg19: chr8-70945599;