chr8-85636122-C-T

Variant names:

• chr8-85636122-C-T
• rs10504814

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 0.179 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
• Publications: 12 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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

African (AFR) AF: 0.316 AC: 13079 AN: 41452

American (AMR) AF: 0.118 AC: 1809 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.109 AC: 379 AN: 3470

East Asian (EAS) AF: 0.0234 AC: 121 AN: 5180

South Asian (SAS) AF: 0.165 AC: 796 AN: 4816

European-Finnish (FIN) AF: 0.138 AC: 1463 AN: 10572

Middle Eastern (MID) AF: 0.143 AC: 42 AN: 294

European-Non Finnish (NFE) AF: 0.131 AC: 8887 AN: 67996

Other (OTH) AF: 0.177 AC: 373 AN: 2106

Alfa AF: 0.143 Hom.: 7604

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
PhyloP100		-0.26

Splicing

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

Other links and lift over

dbSNP: rs10504814; hg19: chr8-86548351;