8-92429873-C-T

Variant names:

• chr8-92429873-C-T
• rs7829923

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.278 in 152,154 control chromosomes in the GnomAD database, including 6,539 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 0.28 (6539 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.420

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.531 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: 0.278 AC: 42334 AN: 152036 Hom.: 6540 Cov.: 33

Gnomad AFR AF: 0.173

Gnomad AMI AF: 0.333

Gnomad AMR AF: 0.358

Gnomad ASJ AF: 0.280

Gnomad EAS AF: 0.546

Gnomad SAS AF: 0.445

Gnomad FIN AF: 0.370

Gnomad MID AF: 0.288

Gnomad NFE AF: 0.278

Gnomad OTH AF: 0.262

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

GnomAD4 genome AF: 0.278 AC: 42365 AN: 152154 Hom.: 6539 Cov.: 33 AF XY: 0.291 AC XY: 21634 AN XY: 74402

Gnomad4 AFR AF: 0.173

Gnomad4 AMR AF: 0.358

Gnomad4 ASJ AF: 0.280

Gnomad4 EAS AF: 0.547

Gnomad4 SAS AF: 0.446

Gnomad4 FIN AF: 0.370

Gnomad4 NFE AF: 0.278

Gnomad4 OTH AF: 0.264

Alfa AF: 0.281 Hom.: 1007

Bravo AF: 0.269

Asia WGS AF: 0.478 AC: 1662 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.97
DANN	Benign	0.18

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7829923; hg19: chr8-93442101;