8-114545658-C-T

Variant names:

• chr8-114545658-C-T
• rs994082

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 0.275 in 151,480 control chromosomes in the GnomAD database, including 5,828 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 0.27 (5828 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00800
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.312 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.275 AC: 41606 AN: 151364 Hom.: 5824 Cov.: 31

Gnomad AFR AF: 0.317

Gnomad AMI AF: 0.182

Gnomad AMR AF: 0.279

Gnomad ASJ AF: 0.307

Gnomad EAS AF: 0.288

Gnomad SAS AF: 0.310

Gnomad FIN AF: 0.279

Gnomad MID AF: 0.351

Gnomad NFE AF: 0.244

Gnomad OTH AF: 0.268

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

GnomAD4 genome AF: 0.275 AC: 41640 AN: 151480 Hom.: 5828 Cov.: 31 AF XY: 0.279 AC XY: 20625 AN XY: 73986

African (AFR) AF: 0.317 AC: 13113 AN: 41410

American (AMR) AF: 0.279 AC: 4217 AN: 15128

Ashkenazi Jewish (ASJ) AF: 0.307 AC: 1063 AN: 3466

East Asian (EAS) AF: 0.288 AC: 1479 AN: 5144

South Asian (SAS) AF: 0.312 AC: 1500 AN: 4808

European-Finnish (FIN) AF: 0.279 AC: 2924 AN: 10476

Middle Eastern (MID) AF: 0.361 AC: 106 AN: 294

European-Non Finnish (NFE) AF: 0.244 AC: 16512 AN: 67744

Other (OTH) AF: 0.267 AC: 561 AN: 2102

Alfa AF: 0.258 Hom.: 683

Bravo AF: 0.278

Asia WGS AF: 0.266 AC: 920 AN: 3456

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.2
DANN	Benign	0.50
PhyloP100		0.0080

Splicing

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

Other links and lift over

dbSNP: rs994082; hg19: chr8-115557887;