8-85636122-C-T

Position:

• chr8-85636122-C-T

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 0.179 in 152,072 control chromosomes in the GnomAD database, including 3,059 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 0.18 (3059 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.255

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.311 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: 0.179 AC: 27130 AN: 151952 Hom.: 3042 Cov.: 33

Gnomad AFR AF: 0.315

Gnomad AMI AF: 0.266

Gnomad AMR AF: 0.119

Gnomad ASJ AF: 0.109

Gnomad EAS AF: 0.0231

Gnomad SAS AF: 0.166

Gnomad FIN AF: 0.138

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.131

Gnomad OTH AF: 0.177

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

GnomAD4 genome AF: 0.179 AC: 27192 AN: 152072 Hom.: 3059 Cov.: 33 AF XY: 0.178 AC XY: 13215 AN XY: 74322

Gnomad4 AFR AF: 0.316

Gnomad4 AMR AF: 0.118

Gnomad4 ASJ AF: 0.109

Gnomad4 EAS AF: 0.0234

Gnomad4 SAS AF: 0.165

Gnomad4 FIN AF: 0.138

Gnomad4 NFE AF: 0.131

Gnomad4 OTH AF: 0.177

Alfa AF: 0.135 Hom.: 3143

Bravo AF: 0.182

Asia WGS AF: 0.152 AC: 526 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.82
DANN	Benign	0.20

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10504814; hg19: chr8-86548351;