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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.863 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

Gnomad4 AFR AF: 0.854

Gnomad4 AMR AF: 0.912

Gnomad4 ASJ AF: 0.933

Gnomad4 EAS AF: 0.859

Gnomad4 SAS AF: 0.779

Gnomad4 FIN AF: 0.871

Gnomad4 NFE AF: 0.857

Gnomad4 OTH AF: 0.891

Alfa AF: 0.863 Hom.: 77153

Bravo AF: 0.870

Asia WGS AF: 0.790 AC: 2750 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9271366; hg19: chr6-32586854;