rs1819730

chr9-107469582-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 0.175 in 152,228 control chromosomes in the GnomAD database, including 2,635 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 0.17 (2635 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.812

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.263 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.175 AC: 26567 AN: 152110 Hom.: 2632 Cov.: 32

Gnomad AFR AF: 0.267

Gnomad AMI AF: 0.223

Gnomad AMR AF: 0.127

Gnomad ASJ AF: 0.107

Gnomad EAS AF: 0.00462

Gnomad SAS AF: 0.154

Gnomad FIN AF: 0.131

Gnomad MID AF: 0.247

Gnomad NFE AF: 0.153

Gnomad OTH AF: 0.184

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

GnomAD4 genome AF: 0.175 AC: 26587 AN: 152228 Hom.: 2635 Cov.: 32 AF XY: 0.171 AC XY: 12725 AN XY: 74432

Gnomad4 AFR AF: 0.267

Gnomad4 AMR AF: 0.126

Gnomad4 ASJ AF: 0.107

Gnomad4 EAS AF: 0.00443

Gnomad4 SAS AF: 0.154

Gnomad4 FIN AF: 0.131

Gnomad4 NFE AF: 0.153

Gnomad4 OTH AF: 0.182

Alfa AF: 0.155 Hom.: 2503

Bravo AF: 0.177

Asia WGS AF: 0.0790 AC: 275 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
Cadd	Benign	8.2
Dann	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1819730; hg19: chr9-110231863;