chr19-22352743-C-G

Variant names:

• chr19-22352743-C-G
• rs8111537

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 0.561 in 151,782 control chromosomes in the GnomAD database, including 24,090 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 0.56 (24090 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.265

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.732 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: 0.561 AC: 85112 AN: 151664 Hom.: 24055 Cov.: 31

Gnomad AFR AF: 0.556

Gnomad AMI AF: 0.443

Gnomad AMR AF: 0.571

Gnomad ASJ AF: 0.689

Gnomad EAS AF: 0.608

Gnomad SAS AF: 0.752

Gnomad FIN AF: 0.564

Gnomad MID AF: 0.662

Gnomad NFE AF: 0.539

Gnomad OTH AF: 0.584

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

GnomAD4 genome AF: 0.561 AC: 85204 AN: 151782 Hom.: 24090 Cov.: 31 AF XY: 0.568 AC XY: 42141 AN XY: 74150

Gnomad4 AFR AF: 0.556

Gnomad4 AMR AF: 0.571

Gnomad4 ASJ AF: 0.689

Gnomad4 EAS AF: 0.609

Gnomad4 SAS AF: 0.752

Gnomad4 FIN AF: 0.564

Gnomad4 NFE AF: 0.539

Gnomad4 OTH AF: 0.587

Alfa AF: 0.404 Hom.: 1039

Bravo AF: 0.554

Asia WGS AF: 0.716 AC: 2490 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	2.6
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8111537; hg19: chr19-22535545;