rs9328192

Variant names:

• chr6-434364-A-G
• rs9328192

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 0.474 in 152,050 control chromosomes in the GnomAD database, including 17,245 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 0.47 (17245 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.75
• Publications: 15 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.488 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: 0.474 AC: 71960 AN: 151932 Hom.: 17228 Cov.: 34

Gnomad AFR AF: 0.474

Gnomad AMI AF: 0.271

Gnomad AMR AF: 0.498

Gnomad ASJ AF: 0.476

Gnomad EAS AF: 0.347

Gnomad SAS AF: 0.381

Gnomad FIN AF: 0.467

Gnomad MID AF: 0.494

Gnomad NFE AF: 0.488

Gnomad OTH AF: 0.479

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

GnomAD4 genome AF: 0.474 AC: 72024 AN: 152050 Hom.: 17245 Cov.: 34 AF XY: 0.470 AC XY: 34907 AN XY: 74290

African (AFR) AF: 0.474 AC: 19648 AN: 41464

American (AMR) AF: 0.498 AC: 7607 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.476 AC: 1652 AN: 3470

East Asian (EAS) AF: 0.347 AC: 1796 AN: 5178

South Asian (SAS) AF: 0.381 AC: 1834 AN: 4816

European-Finnish (FIN) AF: 0.467 AC: 4928 AN: 10544

Middle Eastern (MID) AF: 0.486 AC: 143 AN: 294

European-Non Finnish (NFE) AF: 0.488 AC: 33151 AN: 67974

Other (OTH) AF: 0.482 AC: 1018 AN: 2112

Alfa AF: 0.480 Hom.: 55850

Bravo AF: 0.473

Asia WGS AF: 0.370 AC: 1287 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.037
DANN	Benign	0.17
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs9328192; hg19: chr6-434364;