rs9271366

Variant names:

• chr6-32619077-G-A
• rs9271366

Your query was ambiguous. Multiple possible variants found:

• chr6-32619077-G-A
• chr6-32619077-G-C
• chr6-32619077-G-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 0.863 in 152,064 control chromosomes in the GnomAD database, including 56,701 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 0.86 (56701 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0530
• Publications: 164 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.899 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: 0.863 AC: 131104 AN: 151946 Hom.: 56656 Cov.: 30

Gnomad AFR AF: 0.854

Gnomad AMI AF: 0.914

Gnomad AMR AF: 0.912

Gnomad ASJ AF: 0.933

Gnomad EAS AF: 0.859

Gnomad SAS AF: 0.779

Gnomad FIN AF: 0.871

Gnomad MID AF: 0.937

Gnomad NFE AF: 0.857

Gnomad OTH AF: 0.893

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

GnomAD4 genome AF: 0.863 AC: 131206 AN: 152064 Hom.: 56701 Cov.: 30 AF XY: 0.862 AC XY: 64048 AN XY: 74338

African (AFR) AF: 0.854 AC: 35413 AN: 41462

American (AMR) AF: 0.912 AC: 13941 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.933 AC: 3240 AN: 3472

East Asian (EAS) AF: 0.859 AC: 4432 AN: 5158

South Asian (SAS) AF: 0.779 AC: 3747 AN: 4808

European-Finnish (FIN) AF: 0.871 AC: 9215 AN: 10580

Middle Eastern (MID) AF: 0.932 AC: 274 AN: 294

European-Non Finnish (NFE) AF: 0.857 AC: 58232 AN: 67982

Other (OTH) AF: 0.891 AC: 1880 AN: 2110

Alfa AF: 0.868 Hom.: 139044

Bravo AF: 0.870

Asia WGS AF: 0.790 AC: 2750 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	6.3
DANN	Benign	0.71
PhyloP100		0.053

Splicing

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

Other links and lift over

dbSNP: rs9271366; hg19: chr6-32586854;