rs1330320

Variant names:

• chr9-21255151-A-G
• rs1330320

Your query was ambiguous. Multiple possible variants found:

• chr9-21255151-A-G
• chr9-21255151-A-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 0.4 in 151,908 control chromosomes in the GnomAD database, including 12,295 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 0.40 (12295 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.694
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.496 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: 0.400 AC: 60707 AN: 151790 Hom.: 12281 Cov.: 31

Gnomad AFR AF: 0.409

Gnomad AMI AF: 0.375

Gnomad AMR AF: 0.420

Gnomad ASJ AF: 0.370

Gnomad EAS AF: 0.513

Gnomad SAS AF: 0.318

Gnomad FIN AF: 0.377

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.393

Gnomad OTH AF: 0.393

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

GnomAD4 genome AF: 0.400 AC: 60764 AN: 151908 Hom.: 12295 Cov.: 31 AF XY: 0.399 AC XY: 29637 AN XY: 74256

African (AFR) AF: 0.409 AC: 16942 AN: 41422

American (AMR) AF: 0.420 AC: 6416 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.370 AC: 1285 AN: 3472

East Asian (EAS) AF: 0.513 AC: 2636 AN: 5142

South Asian (SAS) AF: 0.320 AC: 1541 AN: 4816

European-Finnish (FIN) AF: 0.377 AC: 3975 AN: 10538

Middle Eastern (MID) AF: 0.361 AC: 106 AN: 294

European-Non Finnish (NFE) AF: 0.393 AC: 26697 AN: 67936

Other (OTH) AF: 0.391 AC: 826 AN: 2114

Alfa AF: 0.394 Hom.: 36486

Bravo AF: 0.405

Asia WGS AF: 0.403 AC: 1402 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.51
DANN	Benign	0.74
PhyloP100		-0.69

Splicing

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

Other links and lift over

dbSNP: rs1330320; hg19: chr9-21255150; COSMIC: COSV69450713;