8-70107427-G-C

Variant names:

• chr8-70107427-G-C
• rs10216778

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0688 in 151,612 control chromosomes in the GnomAD database, including 427 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 0.069 (427 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.314
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.113 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: 0.0687 AC: 10412 AN: 151494 Hom.: 425 Cov.: 32

Gnomad AFR AF: 0.115

Gnomad AMI AF: 0.0385

Gnomad AMR AF: 0.0302

Gnomad ASJ AF: 0.0919

Gnomad EAS AF: 0.0143

Gnomad SAS AF: 0.102

Gnomad FIN AF: 0.0639

Gnomad MID AF: 0.0190

Gnomad NFE AF: 0.0511

Gnomad OTH AF: 0.0679

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

GnomAD4 genome AF: 0.0688 AC: 10430 AN: 151612 Hom.: 427 Cov.: 32 AF XY: 0.0705 AC XY: 5218 AN XY: 74044

African (AFR) AF: 0.115 AC: 4764 AN: 41306

American (AMR) AF: 0.0301 AC: 458 AN: 15228

Ashkenazi Jewish (ASJ) AF: 0.0919 AC: 319 AN: 3470

East Asian (EAS) AF: 0.0144 AC: 74 AN: 5148

South Asian (SAS) AF: 0.103 AC: 493 AN: 4806

European-Finnish (FIN) AF: 0.0639 AC: 664 AN: 10392

Middle Eastern (MID) AF: 0.0204 AC: 6 AN: 294

European-Non Finnish (NFE) AF: 0.0511 AC: 3475 AN: 67946

Other (OTH) AF: 0.0672 AC: 142 AN: 2112

Alfa AF: 0.0675 Hom.: 38

Bravo AF: 0.0661

Asia WGS AF: 0.0640 AC: 224 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.0
DANN	Benign	0.56
PhyloP100		-0.31

Splicing

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

Other links and lift over

dbSNP: rs10216778; hg19: chr8-71019662;