rs8111398

Variant names:

• chr19-54491873-G-A
• rs8111398

Your query was ambiguous. Multiple possible variants found:

• chr19-54491873-G-A
• chr19-54491873-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 0.533 in 151,658 control chromosomes in the GnomAD database, including 22,339 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 0.53 (22339 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.207

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.599 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: 0.533 AC: 80789 AN: 151538 Hom.: 22336 Cov.: 30

Gnomad AFR AF: 0.405

Gnomad AMI AF: 0.507

Gnomad AMR AF: 0.510

Gnomad ASJ AF: 0.606

Gnomad EAS AF: 0.356

Gnomad SAS AF: 0.599

Gnomad FIN AF: 0.645

Gnomad MID AF: 0.541

Gnomad NFE AF: 0.604

Gnomad OTH AF: 0.530

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

GnomAD4 genome AF: 0.533 AC: 80832 AN: 151658 Hom.: 22339 Cov.: 30 AF XY: 0.534 AC XY: 39599 AN XY: 74102

Gnomad4 AFR AF: 0.405

Gnomad4 AMR AF: 0.511

Gnomad4 ASJ AF: 0.606

Gnomad4 EAS AF: 0.356

Gnomad4 SAS AF: 0.599

Gnomad4 FIN AF: 0.645

Gnomad4 NFE AF: 0.604

Gnomad4 OTH AF: 0.530

Alfa AF: 0.577 Hom.: 11377

Bravo AF: 0.510

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	3.5

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8111398; hg19: chr19-55003092;