8-109143662-A-G

Variant names:

• chr8-109143662-A-G
• rs4735098

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 0.343 in 152,128 control chromosomes in the GnomAD database, including 9,610 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 0.34 (9610 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.337
• Publications: 5 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 (EAS) allele frequency at 95% confidence interval = 0.452 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: 0.343 AC: 52195 AN: 152010 Hom.: 9609 Cov.: 32

Gnomad AFR AF: 0.220

Gnomad AMI AF: 0.558

Gnomad AMR AF: 0.457

Gnomad ASJ AF: 0.229

Gnomad EAS AF: 0.466

Gnomad SAS AF: 0.431

Gnomad FIN AF: 0.419

Gnomad MID AF: 0.212

Gnomad NFE AF: 0.370

Gnomad OTH AF: 0.326

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

GnomAD4 genome AF: 0.343 AC: 52211 AN: 152128 Hom.: 9610 Cov.: 32 AF XY: 0.350 AC XY: 26019 AN XY: 74376

African (AFR) AF: 0.220 AC: 9119 AN: 41520

American (AMR) AF: 0.458 AC: 6993 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.229 AC: 794 AN: 3472

East Asian (EAS) AF: 0.467 AC: 2414 AN: 5168

South Asian (SAS) AF: 0.431 AC: 2078 AN: 4822

European-Finnish (FIN) AF: 0.419 AC: 4421 AN: 10562

Middle Eastern (MID) AF: 0.224 AC: 66 AN: 294

European-Non Finnish (NFE) AF: 0.370 AC: 25126 AN: 67982

Other (OTH) AF: 0.327 AC: 691 AN: 2116

Alfa AF: 0.316 Hom.: 2225

Bravo AF: 0.340

Asia WGS AF: 0.472 AC: 1642 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	3.1
DANN	Benign	0.72
PhyloP100		-0.34

Splicing

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

Other links and lift over

dbSNP: rs4735098; hg19: chr8-110155891;