8-92429873-C-T

Variant names:

• chr8-92429873-C-T
• rs7829923

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 0.278 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
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• 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

African (AFR) AF: 0.173 AC: 7196 AN: 41530

American (AMR) AF: 0.358 AC: 5472 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.280 AC: 970 AN: 3470

East Asian (EAS) AF: 0.547 AC: 2817 AN: 5146

South Asian (SAS) AF: 0.446 AC: 2151 AN: 4828

European-Finnish (FIN) AF: 0.370 AC: 3914 AN: 10590

Middle Eastern (MID) AF: 0.276 AC: 81 AN: 294

European-Non Finnish (NFE) AF: 0.278 AC: 18902 AN: 67984

Other (OTH) AF: 0.264 AC: 559 AN: 2116

Alfa AF: 0.277 Hom.: 1016

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
PhyloP100		-0.42

Splicing

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

Other links and lift over

dbSNP: rs7829923; hg19: chr8-93442101;