rs8112223

Variant names:

• chr19-51728723-G-A
• rs8112223

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 0.461 in 151,976 control chromosomes in the GnomAD database, including 17,225 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 0.46 (17225 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.339
• Publications: 5 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 (AFR) allele frequency at 95% confidence interval = 0.642 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: 0.461 AC: 69970 AN: 151858 Hom.: 17198 Cov.: 31

Gnomad AFR AF: 0.648

Gnomad AMI AF: 0.202

Gnomad AMR AF: 0.448

Gnomad ASJ AF: 0.398

Gnomad EAS AF: 0.281

Gnomad SAS AF: 0.419

Gnomad FIN AF: 0.359

Gnomad MID AF: 0.383

Gnomad NFE AF: 0.390

Gnomad OTH AF: 0.424

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

GnomAD4 genome AF: 0.461 AC: 70046 AN: 151976 Hom.: 17225 Cov.: 31 AF XY: 0.456 AC XY: 33834 AN XY: 74258

African (AFR) AF: 0.648 AC: 26876 AN: 41454

American (AMR) AF: 0.448 AC: 6849 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.398 AC: 1380 AN: 3470

East Asian (EAS) AF: 0.280 AC: 1444 AN: 5158

South Asian (SAS) AF: 0.418 AC: 2006 AN: 4804

European-Finnish (FIN) AF: 0.359 AC: 3790 AN: 10546

Middle Eastern (MID) AF: 0.384 AC: 113 AN: 294

European-Non Finnish (NFE) AF: 0.390 AC: 26506 AN: 67954

Other (OTH) AF: 0.426 AC: 898 AN: 2110

Alfa AF: 0.407 Hom.: 21998

Bravo AF: 0.474

Asia WGS AF: 0.406 AC: 1409 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	7.3
DANN	Benign	0.65
PhyloP100		0.34

Splicing

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

Other links and lift over

dbSNP: rs8112223; hg19: chr19-52231976;