8-109166276-T-C

Variant names:

• chr8-109166276-T-C
• rs4734197

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 0.327 in 152,078 control chromosomes in the GnomAD database, including 8,658 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 0.33 (8658 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.490
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.455 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.327 AC: 49628 AN: 151962 Hom.: 8652 Cov.: 32

Gnomad AFR AF: 0.222

Gnomad AMI AF: 0.556

Gnomad AMR AF: 0.431

Gnomad ASJ AF: 0.198

Gnomad EAS AF: 0.469

Gnomad SAS AF: 0.428

Gnomad FIN AF: 0.392

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.343

Gnomad OTH AF: 0.310

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

GnomAD4 genome AF: 0.327 AC: 49655 AN: 152078 Hom.: 8658 Cov.: 32 AF XY: 0.332 AC XY: 24685 AN XY: 74334

African (AFR) AF: 0.222 AC: 9204 AN: 41520

American (AMR) AF: 0.432 AC: 6587 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.198 AC: 687 AN: 3470

East Asian (EAS) AF: 0.470 AC: 2428 AN: 5162

South Asian (SAS) AF: 0.428 AC: 2054 AN: 4804

European-Finnish (FIN) AF: 0.392 AC: 4150 AN: 10588

Middle Eastern (MID) AF: 0.202 AC: 59 AN: 292

European-Non Finnish (NFE) AF: 0.343 AC: 23316 AN: 67962

Other (OTH) AF: 0.314 AC: 663 AN: 2112

Alfa AF: 0.257 Hom.: 950

Bravo AF: 0.325

Asia WGS AF: 0.472 AC: 1640 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	5.4
DANN	Benign	0.42
PhyloP100		-0.49

Splicing

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

Other links and lift over

dbSNP: rs4734197; hg19: chr8-110178505;