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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.223 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

Gnomad4 AFR AF: 0.297

Gnomad4 AMR AF: 0.257

Gnomad4 ASJ AF: 0.200

Gnomad4 EAS AF: 0.413

Gnomad4 SAS AF: 0.112

Gnomad4 FIN AF: 0.197

Gnomad4 NFE AF: 0.171

Gnomad4 OTH AF: 0.215

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7047811; hg19: chr9-21181454;