rs9275793

Variant names:

• chr6-32722250-G-A
• rs9275793

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 0.741 in 151,814 control chromosomes in the GnomAD database, including 42,192 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 0.74 (42192 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.186
• Publications: 22 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.869 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: 0.741 AC: 112453 AN: 151696 Hom.: 42158 Cov.: 30

Gnomad AFR AF: 0.638

Gnomad AMI AF: 0.815

Gnomad AMR AF: 0.784

Gnomad ASJ AF: 0.813

Gnomad EAS AF: 0.884

Gnomad SAS AF: 0.891

Gnomad FIN AF: 0.769

Gnomad MID AF: 0.835

Gnomad NFE AF: 0.762

Gnomad OTH AF: 0.784

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

GnomAD4 genome AF: 0.741 AC: 112542 AN: 151814 Hom.: 42192 Cov.: 30 AF XY: 0.744 AC XY: 55222 AN XY: 74192

African (AFR) AF: 0.639 AC: 26411 AN: 41358

American (AMR) AF: 0.784 AC: 11957 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.813 AC: 2819 AN: 3466

East Asian (EAS) AF: 0.884 AC: 4585 AN: 5184

South Asian (SAS) AF: 0.891 AC: 4294 AN: 4818

European-Finnish (FIN) AF: 0.769 AC: 8086 AN: 10512

Middle Eastern (MID) AF: 0.840 AC: 247 AN: 294

European-Non Finnish (NFE) AF: 0.762 AC: 51737 AN: 67908

Other (OTH) AF: 0.787 AC: 1663 AN: 2112

Alfa AF: 0.744 Hom.: 102502

Bravo AF: 0.734

Asia WGS AF: 0.870 AC: 3019 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	6.0
DANN	Benign	0.41
PhyloP100		-0.19

Splicing

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

Other links and lift over

dbSNP: rs9275793; hg19: chr6-32690027;