rs9267955

Variant names:

• chr6-32245373-A-G
• rs9267955

Your query was ambiguous. Multiple possible variants found:

• chr6-32245373-A-G
• chr6-32245373-A-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 0.89 in 152,324 control chromosomes in the GnomAD database, including 60,387 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 0.89 (60387 hom., cov: 35)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.148
• Publications: 24 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.973 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: 0.890 AC: 135421 AN: 152206 Hom.: 60339 Cov.: 35

Gnomad AFR AF: 0.910

Gnomad AMI AF: 0.913

Gnomad AMR AF: 0.904

Gnomad ASJ AF: 0.966

Gnomad EAS AF: 0.996

Gnomad SAS AF: 0.978

Gnomad FIN AF: 0.877

Gnomad MID AF: 0.959

Gnomad NFE AF: 0.856

Gnomad OTH AF: 0.910

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

GnomAD4 genome AF: 0.890 AC: 135528 AN: 152324 Hom.: 60387 Cov.: 35 AF XY: 0.892 AC XY: 66428 AN XY: 74488

African (AFR) AF: 0.910 AC: 37823 AN: 41558

American (AMR) AF: 0.904 AC: 13839 AN: 15304

Ashkenazi Jewish (ASJ) AF: 0.966 AC: 3353 AN: 3472

East Asian (EAS) AF: 0.996 AC: 5166 AN: 5188

South Asian (SAS) AF: 0.979 AC: 4729 AN: 4832

European-Finnish (FIN) AF: 0.877 AC: 9310 AN: 10618

Middle Eastern (MID) AF: 0.956 AC: 281 AN: 294

European-Non Finnish (NFE) AF: 0.856 AC: 58268 AN: 68032

Other (OTH) AF: 0.911 AC: 1926 AN: 2114

Alfa AF: 0.875 Hom.: 112862

Bravo AF: 0.893

Asia WGS AF: 0.977 AC: 3397 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	5.1
DANN	Benign	0.53
PhyloP100		0.15

Splicing

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

Other links and lift over

dbSNP: rs9267955; hg19: chr6-32213150;