8-128207827-T-G

Variant names:

• chr8-128207827-T-G
• rs11995854

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 0.256 in 152,098 control chromosomes in the GnomAD database, including 5,590 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 0.26 (5590 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.261
• Publications: 13 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.377 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: 0.256 AC: 38917 AN: 151980 Hom.: 5584 Cov.: 32

Gnomad AFR AF: 0.382

Gnomad AMI AF: 0.159

Gnomad AMR AF: 0.288

Gnomad ASJ AF: 0.190

Gnomad EAS AF: 0.0879

Gnomad SAS AF: 0.132

Gnomad FIN AF: 0.200

Gnomad MID AF: 0.205

Gnomad NFE AF: 0.208

Gnomad OTH AF: 0.244

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

GnomAD4 genome AF: 0.256 AC: 38963 AN: 152098 Hom.: 5590 Cov.: 32 AF XY: 0.253 AC XY: 18823 AN XY: 74356

African (AFR) AF: 0.382 AC: 15842 AN: 41476

American (AMR) AF: 0.288 AC: 4411 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.190 AC: 660 AN: 3466

East Asian (EAS) AF: 0.0883 AC: 458 AN: 5186

South Asian (SAS) AF: 0.132 AC: 636 AN: 4816

European-Finnish (FIN) AF: 0.200 AC: 2114 AN: 10574

Middle Eastern (MID) AF: 0.207 AC: 60 AN: 290

European-Non Finnish (NFE) AF: 0.208 AC: 14120 AN: 67976

Other (OTH) AF: 0.245 AC: 517 AN: 2110

Alfa AF: 0.230 Hom.: 6483

Bravo AF: 0.267

Asia WGS AF: 0.156 AC: 546 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.9
DANN	Benign	0.60
PhyloP100		-0.26

Splicing

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

Other links and lift over

dbSNP: rs11995854; hg19: chr8-129220073;