rs4819554

Variant names:

• chr22-17084145-G-A
• rs4819554

Your query was ambiguous. Multiple possible variants found:

• chr22-17084145-G-A
• chr22-17084145-G-C

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 0.831 in 152,194 control chromosomes in the GnomAD database, including 53,446 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 0.83 (53446 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.154

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.952 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: 0.831 AC: 126409 AN: 152076 Hom.: 53393 Cov.: 32

Gnomad AFR AF: 0.960

Gnomad AMI AF: 0.867

Gnomad AMR AF: 0.659

Gnomad ASJ AF: 0.810

Gnomad EAS AF: 0.579

Gnomad SAS AF: 0.761

Gnomad FIN AF: 0.842

Gnomad MID AF: 0.927

Gnomad NFE AF: 0.815

Gnomad OTH AF: 0.814

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

GnomAD4 genome AF: 0.831 AC: 126515 AN: 152194 Hom.: 53446 Cov.: 32 AF XY: 0.828 AC XY: 61596 AN XY: 74412

Gnomad4 AFR AF: 0.960

Gnomad4 AMR AF: 0.658

Gnomad4 ASJ AF: 0.810

Gnomad4 EAS AF: 0.579

Gnomad4 SAS AF: 0.762

Gnomad4 FIN AF: 0.842

Gnomad4 NFE AF: 0.815

Gnomad4 OTH AF: 0.813

Alfa AF: 0.802 Hom.: 46983

Bravo AF: 0.820

Asia WGS AF: 0.673 AC: 2338 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	6.0
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4819554; hg19: chr22-17565035;