chr8-111288052-C-T

Variant names:

• chr8-111288052-C-T
• rs10505156

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 0.178 in 151,634 control chromosomes in the GnomAD database, including 3,286 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 (3286 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.590
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.258 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.179 AC: 27063 AN: 151516 Hom.: 3285 Cov.: 32

Gnomad AFR AF: 0.0454

Gnomad AMI AF: 0.106

Gnomad AMR AF: 0.167

Gnomad ASJ AF: 0.241

Gnomad EAS AF: 0.000966

Gnomad SAS AF: 0.0625

Gnomad FIN AF: 0.313

Gnomad MID AF: 0.203

Gnomad NFE AF: 0.261

Gnomad OTH AF: 0.182

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

GnomAD4 genome AF: 0.178 AC: 27060 AN: 151634 Hom.: 3286 Cov.: 32 AF XY: 0.178 AC XY: 13185 AN XY: 74064

African (AFR) AF: 0.0453 AC: 1877 AN: 41416

American (AMR) AF: 0.167 AC: 2542 AN: 15224

Ashkenazi Jewish (ASJ) AF: 0.241 AC: 835 AN: 3466

East Asian (EAS) AF: 0.000968 AC: 5 AN: 5166

South Asian (SAS) AF: 0.0634 AC: 304 AN: 4798

European-Finnish (FIN) AF: 0.313 AC: 3277 AN: 10458

Middle Eastern (MID) AF: 0.200 AC: 58 AN: 290

European-Non Finnish (NFE) AF: 0.261 AC: 17687 AN: 67804

Other (OTH) AF: 0.180 AC: 378 AN: 2100

Alfa AF: 0.131 Hom.: 269

Bravo AF: 0.164

Asia WGS AF: 0.0370 AC: 128 AN: 3462

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.22
DANN	Benign	0.60
PhyloP100		-0.59

Splicing

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

Other links and lift over

dbSNP: rs10505156; hg19: chr8-112300281;