8-127510669-C-T

Variant names:

• chr8-127510669-C-T
• rs10088308

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 0.813 in 152,142 control chromosomes in the GnomAD database, including 50,621 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 0.81 (50621 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.248
• 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 (NFE) allele frequency at 95% confidence interval = 0.861 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: 0.813 AC: 123564 AN: 152024 Hom.: 50598 Cov.: 32

Gnomad AFR AF: 0.708

Gnomad AMI AF: 0.903

Gnomad AMR AF: 0.840

Gnomad ASJ AF: 0.924

Gnomad EAS AF: 0.755

Gnomad SAS AF: 0.833

Gnomad FIN AF: 0.801

Gnomad MID AF: 0.921

Gnomad NFE AF: 0.867

Gnomad OTH AF: 0.852

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

GnomAD4 genome AF: 0.813 AC: 123629 AN: 152142 Hom.: 50621 Cov.: 32 AF XY: 0.811 AC XY: 60333 AN XY: 74362

African (AFR) AF: 0.708 AC: 29391 AN: 41506

American (AMR) AF: 0.839 AC: 12843 AN: 15306

Ashkenazi Jewish (ASJ) AF: 0.924 AC: 3208 AN: 3470

East Asian (EAS) AF: 0.755 AC: 3907 AN: 5176

South Asian (SAS) AF: 0.833 AC: 4012 AN: 4816

European-Finnish (FIN) AF: 0.801 AC: 8444 AN: 10540

Middle Eastern (MID) AF: 0.929 AC: 273 AN: 294

European-Non Finnish (NFE) AF: 0.867 AC: 58945 AN: 68014

Other (OTH) AF: 0.845 AC: 1784 AN: 2110

Alfa AF: 0.851 Hom.: 26018

Bravo AF: 0.808

Asia WGS AF: 0.738 AC: 2568 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	1.8
DANN	Benign	0.49
PhyloP100		-0.25

Splicing

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

Other links and lift over

dbSNP: rs10088308; hg19: chr8-128522914; COSMIC: COSV70885400;