rs9332428

Variant names:

• chr19-28861192-G-A
• rs9332428

Your query was ambiguous. Multiple possible variants found:

• chr19-28861192-G-A
• chr19-28861192-G-C
• chr19-28861192-G-T

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 0.58 in 152,062 control chromosomes in the GnomAD database, including 25,684 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 0.58 (25684 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.379
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.605 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: 0.580 AC: 88115 AN: 151944 Hom.: 25654 Cov.: 32

Gnomad AFR AF: 0.611

Gnomad AMI AF: 0.633

Gnomad AMR AF: 0.599

Gnomad ASJ AF: 0.550

Gnomad EAS AF: 0.460

Gnomad SAS AF: 0.527

Gnomad FIN AF: 0.490

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.584

Gnomad OTH AF: 0.587

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

GnomAD4 genome AF: 0.580 AC: 88197 AN: 152062 Hom.: 25684 Cov.: 32 AF XY: 0.575 AC XY: 42713 AN XY: 74322

African (AFR) AF: 0.612 AC: 25362 AN: 41464

American (AMR) AF: 0.599 AC: 9154 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.550 AC: 1908 AN: 3468

East Asian (EAS) AF: 0.460 AC: 2387 AN: 5188

South Asian (SAS) AF: 0.527 AC: 2535 AN: 4810

European-Finnish (FIN) AF: 0.490 AC: 5170 AN: 10550

Middle Eastern (MID) AF: 0.517 AC: 151 AN: 292

European-Non Finnish (NFE) AF: 0.584 AC: 39719 AN: 67982

Other (OTH) AF: 0.585 AC: 1234 AN: 2110

Alfa AF: 0.583 Hom.: 51249

Bravo AF: 0.590

Asia WGS AF: 0.511 AC: 1775 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	2.1
DANN	Benign	0.52
PhyloP100		-0.38

Splicing

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

Other links and lift over

dbSNP: rs9332428; hg19: chr19-29352099;