rs9295794

Variant names:

• chr6-29137158-G-A
• rs9295794

Your query was ambiguous. Multiple possible variants found:

• chr6-29137158-G-A
• chr6-29137158-G-T

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 0.0808 in 151,920 control chromosomes in the GnomAD database, including 575 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 0.081 (575 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.756

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.0929 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: 0.0809 AC: 12276 AN: 151798 Hom.: 574 Cov.: 32

Gnomad AFR AF: 0.0540

Gnomad AMI AF: 0.0428

Gnomad AMR AF: 0.0969

Gnomad ASJ AF: 0.106

Gnomad EAS AF: 0.0922

Gnomad SAS AF: 0.0745

Gnomad FIN AF: 0.107

Gnomad MID AF: 0.0288

Gnomad NFE AF: 0.0885

Gnomad OTH AF: 0.0869

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

GnomAD4 genome AF: 0.0808 AC: 12280 AN: 151920 Hom.: 575 Cov.: 32 AF XY: 0.0815 AC XY: 6049 AN XY: 74246

Gnomad4 AFR AF: 0.0539

Gnomad4 AMR AF: 0.0970

Gnomad4 ASJ AF: 0.106

Gnomad4 EAS AF: 0.0926

Gnomad4 SAS AF: 0.0746

Gnomad4 FIN AF: 0.107

Gnomad4 NFE AF: 0.0885

Gnomad4 OTH AF: 0.0860

Alfa AF: 0.0770 Hom.: 333

Bravo AF: 0.0826

Asia WGS AF: 0.0770 AC: 269 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	3.2
DANN	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9295794; hg19: chr6-29104935;