8-70033364-A-G

Variant names:

• chr8-70033364-A-G
• rs6993479

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;