rs7047811

Variant names:

• chr9-21181455-T-A
• rs7047811

Your query was ambiguous. Multiple possible variants found:

• chr9-21181455-T-A
• chr9-21181455-T-C

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 0.223 in 151,978 control chromosomes in the GnomAD database, including 4,201 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 0.22 (4201 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.206
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.399 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: 0.223 AC: 33831 AN: 151860 Hom.: 4189 Cov.: 32

Gnomad AFR AF: 0.297

Gnomad AMI AF: 0.150

Gnomad AMR AF: 0.256

Gnomad ASJ AF: 0.200

Gnomad EAS AF: 0.413

Gnomad SAS AF: 0.110

Gnomad FIN AF: 0.197

Gnomad MID AF: 0.158

Gnomad NFE AF: 0.171

Gnomad OTH AF: 0.214

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

GnomAD4 genome AF: 0.223 AC: 33896 AN: 151978 Hom.: 4201 Cov.: 32 AF XY: 0.224 AC XY: 16601 AN XY: 74276

African (AFR) AF: 0.297 AC: 12312 AN: 41434

American (AMR) AF: 0.257 AC: 3922 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.200 AC: 695 AN: 3468

East Asian (EAS) AF: 0.413 AC: 2124 AN: 5140

South Asian (SAS) AF: 0.112 AC: 541 AN: 4826

European-Finnish (FIN) AF: 0.197 AC: 2078 AN: 10568

Middle Eastern (MID) AF: 0.153 AC: 45 AN: 294

European-Non Finnish (NFE) AF: 0.171 AC: 11589 AN: 67946

Other (OTH) AF: 0.215 AC: 454 AN: 2116

Alfa AF: 0.207 Hom.: 420

Bravo AF: 0.234

Asia WGS AF: 0.257 AC: 895 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.9
DANN	Benign	0.22
PhyloP100		0.21

Splicing

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

Other links and lift over

dbSNP: rs7047811; hg19: chr9-21181454;