rs4922199

Variant names:

• chr8-20443926-A-C
• rs4922199

Your query was ambiguous. Multiple possible variants found:

• chr8-20443926-A-C
• chr8-20443926-A-G

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 0.308 in 152,042 control chromosomes in the GnomAD database, including 7,896 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 0.31 (7896 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.04

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.606 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: 0.308 AC: 46730 AN: 151926 Hom.: 7892 Cov.: 32

Gnomad AFR AF: 0.208

Gnomad AMI AF: 0.401

Gnomad AMR AF: 0.379

Gnomad ASJ AF: 0.327

Gnomad EAS AF: 0.623

Gnomad SAS AF: 0.485

Gnomad FIN AF: 0.269

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.318

Gnomad OTH AF: 0.344

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

GnomAD4 genome AF: 0.308 AC: 46754 AN: 152042 Hom.: 7896 Cov.: 32 AF XY: 0.312 AC XY: 23190 AN XY: 74298

Gnomad4 AFR AF: 0.208

Gnomad4 AMR AF: 0.379

Gnomad4 ASJ AF: 0.327

Gnomad4 EAS AF: 0.624

Gnomad4 SAS AF: 0.485

Gnomad4 FIN AF: 0.269

Gnomad4 NFE AF: 0.318

Gnomad4 OTH AF: 0.343

Alfa AF: 0.200 Hom.: 552

Bravo AF: 0.311

Asia WGS AF: 0.500 AC: 1738 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.19
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4922199; hg19: chr8-20301437;