8-128211807-G-T

Variant names:

• chr8-128211807-G-T
• rs1967314

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 0.874 in 152,074 control chromosomes in the GnomAD database, including 58,684 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 0.87 (58684 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.810
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.914 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: 0.874 AC: 132869 AN: 151956 Hom.: 58645 Cov.: 30

Gnomad AFR AF: 0.864

Gnomad AMI AF: 0.896

Gnomad AMR AF: 0.839

Gnomad ASJ AF: 0.929

Gnomad EAS AF: 0.482

Gnomad SAS AF: 0.736

Gnomad FIN AF: 0.910

Gnomad MID AF: 0.911

Gnomad NFE AF: 0.920

Gnomad OTH AF: 0.860

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

GnomAD4 genome AF: 0.874 AC: 132972 AN: 152074 Hom.: 58684 Cov.: 30 AF XY: 0.869 AC XY: 64597 AN XY: 74346

African (AFR) AF: 0.864 AC: 35833 AN: 41482

American (AMR) AF: 0.839 AC: 12824 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.929 AC: 3226 AN: 3472

East Asian (EAS) AF: 0.483 AC: 2492 AN: 5156

South Asian (SAS) AF: 0.738 AC: 3557 AN: 4818

European-Finnish (FIN) AF: 0.910 AC: 9628 AN: 10576

Middle Eastern (MID) AF: 0.915 AC: 269 AN: 294

European-Non Finnish (NFE) AF: 0.920 AC: 62512 AN: 67968

Other (OTH) AF: 0.861 AC: 1816 AN: 2110

Alfa AF: 0.905 Hom.: 88771

Bravo AF: 0.867

Asia WGS AF: 0.619 AC: 2156 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.28
DANN	Benign	0.48
PhyloP100		-0.81

Splicing

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

Other links and lift over

dbSNP: rs1967314; hg19: chr8-129224053;