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. The variant received -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
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

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

African (AFR) AF: 0.208 AC: 8619 AN: 41480

American (AMR) AF: 0.379 AC: 5795 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.327 AC: 1134 AN: 3470

East Asian (EAS) AF: 0.624 AC: 3210 AN: 5148

South Asian (SAS) AF: 0.485 AC: 2340 AN: 4820

European-Finnish (FIN) AF: 0.269 AC: 2836 AN: 10562

Middle Eastern (MID) AF: 0.425 AC: 124 AN: 292

European-Non Finnish (NFE) AF: 0.318 AC: 21607 AN: 67972

Other (OTH) AF: 0.343 AC: 724 AN: 2112

Alfa AF: 0.277 Hom.: 3672

Bravo AF: 0.311

Asia WGS AF: 0.500 AC: 1738 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.19
DANN	Benign	0.38
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs4922199; hg19: chr8-20301437;