rs9275793

Variant names:

• chr6-32722250-G-A
• rs9275793

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 0.741 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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.741 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

Gnomad4 AFR AF: 0.639

Gnomad4 AMR AF: 0.784

Gnomad4 ASJ AF: 0.813

Gnomad4 EAS AF: 0.884

Gnomad4 SAS AF: 0.891

Gnomad4 FIN AF: 0.769

Gnomad4 NFE AF: 0.762

Gnomad4 OTH AF: 0.787

Alfa AF: 0.761 Hom.: 24889

Bravo AF: 0.734

Asia WGS AF: 0.870 AC: 3019 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9275793; hg19: chr6-32690027;