8-100907093-C-T

Variant names:

• chr8-100907093-C-T
• rs931812

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 0.255 in 152,212 control chromosomes in the GnomAD database, including 5,132 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 0.25 (5132 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.482
• Publications: 16 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 (NFE) allele frequency at 95% confidence interval = 0.285 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: 0.255 AC: 38737 AN: 152094 Hom.: 5122 Cov.: 33

Gnomad AFR AF: 0.216

Gnomad AMI AF: 0.350

Gnomad AMR AF: 0.240

Gnomad ASJ AF: 0.239

Gnomad EAS AF: 0.134

Gnomad SAS AF: 0.258

Gnomad FIN AF: 0.268

Gnomad MID AF: 0.269

Gnomad NFE AF: 0.288

Gnomad OTH AF: 0.255

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

GnomAD4 genome AF: 0.255 AC: 38779 AN: 152212 Hom.: 5132 Cov.: 33 AF XY: 0.252 AC XY: 18728 AN XY: 74408

African (AFR) AF: 0.216 AC: 8986 AN: 41556

American (AMR) AF: 0.241 AC: 3678 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.239 AC: 829 AN: 3472

East Asian (EAS) AF: 0.134 AC: 696 AN: 5176

South Asian (SAS) AF: 0.259 AC: 1253 AN: 4832

European-Finnish (FIN) AF: 0.268 AC: 2831 AN: 10574

Middle Eastern (MID) AF: 0.262 AC: 77 AN: 294

European-Non Finnish (NFE) AF: 0.288 AC: 19577 AN: 67992

Other (OTH) AF: 0.252 AC: 533 AN: 2114

Alfa AF: 0.249 Hom.: 4211

Bravo AF: 0.251

Asia WGS AF: 0.184 AC: 643 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.92
DANN	Benign	0.59
PhyloP100		-0.48

Splicing

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

Other links and lift over

dbSNP: rs931812; hg19: chr8-101919321;