rs7034867

Variant names:

• chr9-99096233-C-A
• rs7034867

Your query was ambiguous. Multiple possible variants found:

• chr9-99096233-C-A
• chr9-99096233-C-T

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.0804 in 152,210 control chromosomes in the GnomAD database, including 628 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 0.080 (628 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.163

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.45).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0979 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: 0.0804 AC: 12227 AN: 152092 Hom.: 629 Cov.: 33

Gnomad AFR AF: 0.0567

Gnomad AMI AF: 0.0811

Gnomad AMR AF: 0.0617

Gnomad ASJ AF: 0.0772

Gnomad EAS AF: 0.000770

Gnomad SAS AF: 0.0352

Gnomad FIN AF: 0.134

Gnomad MID AF: 0.0854

Gnomad NFE AF: 0.0999

Gnomad OTH AF: 0.0882

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

GnomAD4 genome AF: 0.0804 AC: 12234 AN: 152210 Hom.: 628 Cov.: 33 AF XY: 0.0803 AC XY: 5976 AN XY: 74414

Gnomad4 AFR AF: 0.0567

Gnomad4 AMR AF: 0.0616

Gnomad4 ASJ AF: 0.0772

Gnomad4 EAS AF: 0.000772

Gnomad4 SAS AF: 0.0354

Gnomad4 FIN AF: 0.134

Gnomad4 NFE AF: 0.0999

Gnomad4 OTH AF: 0.0873

Alfa AF: 0.0468 Hom.: 59

Bravo AF: 0.0743

Asia WGS AF: 0.0180 AC: 62 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.45
CADD	Benign	9.8
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7034867; hg19: chr9-101858515;