rs7047687

Variant names:

• chr9-21167653-C-A
• rs7047687

Your query was ambiguous. Multiple possible variants found:

• chr9-21167653-C-A
• chr9-21167653-C-G
• chr9-21167653-C-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 0.624 in 151,876 control chromosomes in the GnomAD database, including 29,771 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 0.62 (29771 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.404
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.853 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: 0.624 AC: 94648 AN: 151758 Hom.: 29731 Cov.: 32

Gnomad AFR AF: 0.619

Gnomad AMI AF: 0.652

Gnomad AMR AF: 0.646

Gnomad ASJ AF: 0.607

Gnomad EAS AF: 0.874

Gnomad SAS AF: 0.714

Gnomad FIN AF: 0.591

Gnomad MID AF: 0.617

Gnomad NFE AF: 0.602

Gnomad OTH AF: 0.629

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

GnomAD4 genome AF: 0.624 AC: 94744 AN: 151876 Hom.: 29771 Cov.: 32 AF XY: 0.628 AC XY: 46570 AN XY: 74206

African (AFR) AF: 0.619 AC: 25643 AN: 41438

American (AMR) AF: 0.646 AC: 9865 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.607 AC: 2103 AN: 3464

East Asian (EAS) AF: 0.874 AC: 4535 AN: 5188

South Asian (SAS) AF: 0.714 AC: 3443 AN: 4822

European-Finnish (FIN) AF: 0.591 AC: 6209 AN: 10508

Middle Eastern (MID) AF: 0.636 AC: 187 AN: 294

European-Non Finnish (NFE) AF: 0.602 AC: 40831 AN: 67874

Other (OTH) AF: 0.634 AC: 1336 AN: 2108

Alfa AF: 0.473 Hom.: 1247

Bravo AF: 0.628

Asia WGS AF: 0.790 AC: 2739 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.83
DANN	Benign	0.26
PhyloP100		-0.40

Splicing

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

Other links and lift over

dbSNP: rs7047687; hg19: chr9-21167652; COSMIC: COSV66518887;