8-114070041-T-G

Variant names:

• chr8-114070041-T-G
• rs4445257

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 0.196 in 152,182 control chromosomes in the GnomAD database, including 3,646 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 0.20 (3646 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.581 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: 0.196 AC: 29753 AN: 152064 Hom.: 3640 Cov.: 33

Gnomad AFR AF: 0.119

Gnomad AMI AF: 0.0493

Gnomad AMR AF: 0.283

Gnomad ASJ AF: 0.160

Gnomad EAS AF: 0.599

Gnomad SAS AF: 0.389

Gnomad FIN AF: 0.212

Gnomad MID AF: 0.203

Gnomad NFE AF: 0.180

Gnomad OTH AF: 0.205

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

GnomAD4 genome AF: 0.196 AC: 29770 AN: 152182 Hom.: 3646 Cov.: 33 AF XY: 0.206 AC XY: 15298 AN XY: 74386

African (AFR) AF: 0.119 AC: 4924 AN: 41530

American (AMR) AF: 0.284 AC: 4342 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.160 AC: 554 AN: 3470

East Asian (EAS) AF: 0.599 AC: 3089 AN: 5156

South Asian (SAS) AF: 0.388 AC: 1872 AN: 4824

European-Finnish (FIN) AF: 0.212 AC: 2241 AN: 10580

Middle Eastern (MID) AF: 0.207 AC: 61 AN: 294

European-Non Finnish (NFE) AF: 0.180 AC: 12211 AN: 68014

Other (OTH) AF: 0.204 AC: 431 AN: 2112

Alfa AF: 0.178 Hom.: 370

Bravo AF: 0.199

Asia WGS AF: 0.448 AC: 1555 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.058
DANN	Benign	0.35
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs4445257; hg19: chr8-115082270;