chr8-129807793-C-T

Variant names:

• chr8-129807793-C-T
• rs2128382

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 0.15 in 152,160 control chromosomes in the GnomAD database, including 1,749 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 0.15 (1749 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.26
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.168 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: 0.150 AC: 22753 AN: 152042 Hom.: 1748 Cov.: 33

Gnomad AFR AF: 0.120

Gnomad AMI AF: 0.119

Gnomad AMR AF: 0.142

Gnomad ASJ AF: 0.288

Gnomad EAS AF: 0.106

Gnomad SAS AF: 0.154

Gnomad FIN AF: 0.108

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.171

Gnomad OTH AF: 0.180

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

GnomAD4 genome AF: 0.150 AC: 22766 AN: 152160 Hom.: 1749 Cov.: 33 AF XY: 0.149 AC XY: 11059 AN XY: 74396

African (AFR) AF: 0.120 AC: 4993 AN: 41496

American (AMR) AF: 0.142 AC: 2164 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.288 AC: 1001 AN: 3470

East Asian (EAS) AF: 0.106 AC: 550 AN: 5182

South Asian (SAS) AF: 0.154 AC: 744 AN: 4818

European-Finnish (FIN) AF: 0.108 AC: 1146 AN: 10590

Middle Eastern (MID) AF: 0.248 AC: 73 AN: 294

European-Non Finnish (NFE) AF: 0.171 AC: 11611 AN: 68006

Other (OTH) AF: 0.178 AC: 376 AN: 2114

Alfa AF: 0.157 Hom.: 247

Bravo AF: 0.149

Asia WGS AF: 0.122 AC: 425 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	3.8
DANN	Benign	0.40
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs2128382; hg19: chr8-130820039;