chr8-92683627-T-C

Position:

• chr8-92683627-T-C

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.0977 in 152,244 control chromosomes in the GnomAD database, including 1,608 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 0.098 (1608 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.71

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.44).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.266 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0977 AC: 14857 AN: 152126 Hom.: 1605 Cov.: 32

Gnomad AFR AF: 0.270

Gnomad AMI AF: 0.0471

Gnomad AMR AF: 0.0560

Gnomad ASJ AF: 0.0357

Gnomad EAS AF: 0.000385

Gnomad SAS AF: 0.00932

Gnomad FIN AF: 0.0171

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.0329

Gnomad OTH AF: 0.0778

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

GnomAD4 genome AF: 0.0977 AC: 14875 AN: 152244 Hom.: 1608 Cov.: 32 AF XY: 0.0924 AC XY: 6880 AN XY: 74446

Gnomad4 AFR AF: 0.270

Gnomad4 AMR AF: 0.0559

Gnomad4 ASJ AF: 0.0357

Gnomad4 EAS AF: 0.000386

Gnomad4 SAS AF: 0.00932

Gnomad4 FIN AF: 0.0171

Gnomad4 NFE AF: 0.0329

Gnomad4 OTH AF: 0.0770

Alfa AF: 0.0917 Hom.: 207

Bravo AF: 0.108

Asia WGS AF: 0.0240 AC: 83 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.44
CADD	Benign	9.4
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7820107; hg19: chr8-93695855;