rs9320773

Variant names:

• chr6-120855351-G-A
• rs9320773

Your query was ambiguous. Multiple possible variants found:

• chr6-120855351-G-A
• chr6-120855351-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 0.302 in 151,970 control chromosomes in the GnomAD database, including 7,289 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 0.30 (7289 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.414
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.471 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.302 AC: 45902 AN: 151852 Hom.: 7281 Cov.: 33

Gnomad AFR AF: 0.299

Gnomad AMI AF: 0.183

Gnomad AMR AF: 0.413

Gnomad ASJ AF: 0.352

Gnomad EAS AF: 0.487

Gnomad SAS AF: 0.441

Gnomad FIN AF: 0.197

Gnomad MID AF: 0.377

Gnomad NFE AF: 0.270

Gnomad OTH AF: 0.314

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

GnomAD4 genome AF: 0.302 AC: 45926 AN: 151970 Hom.: 7289 Cov.: 33 AF XY: 0.305 AC XY: 22684 AN XY: 74288

African (AFR) AF: 0.299 AC: 12385 AN: 41482

American (AMR) AF: 0.413 AC: 6291 AN: 15232

Ashkenazi Jewish (ASJ) AF: 0.352 AC: 1220 AN: 3466

East Asian (EAS) AF: 0.487 AC: 2522 AN: 5176

South Asian (SAS) AF: 0.440 AC: 2121 AN: 4816

European-Finnish (FIN) AF: 0.197 AC: 2087 AN: 10578

Middle Eastern (MID) AF: 0.371 AC: 109 AN: 294

European-Non Finnish (NFE) AF: 0.270 AC: 18362 AN: 67912

Other (OTH) AF: 0.315 AC: 662 AN: 2102

Alfa AF: 0.283 Hom.: 13953

Bravo AF: 0.317

Asia WGS AF: 0.431 AC: 1494 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	9.8
DANN	Benign	0.83
PhyloP100		-0.41

Splicing

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

Other links and lift over

dbSNP: rs9320773; hg19: chr6-121176497; COSMIC: COSV60275962;