rs9275292

Variant names:

• chr6-32695512-C-A
• rs9275292

Your query was ambiguous. Multiple possible variants found:

• chr6-32695512-C-A
• chr6-32695512-C-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 0.535 in 149,846 control chromosomes in the GnomAD database, including 22,220 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 0.53 (22220 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.15
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.633 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.535 AC: 80031 AN: 149728 Hom.: 22199 Cov.: 29

Gnomad AFR AF: 0.522

Gnomad AMI AF: 0.717

Gnomad AMR AF: 0.633

Gnomad ASJ AF: 0.614

Gnomad EAS AF: 0.652

Gnomad SAS AF: 0.413

Gnomad FIN AF: 0.617

Gnomad MID AF: 0.590

Gnomad NFE AF: 0.500

Gnomad OTH AF: 0.553

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

GnomAD4 genome AF: 0.535 AC: 80108 AN: 149846 Hom.: 22220 Cov.: 29 AF XY: 0.539 AC XY: 39455 AN XY: 73180

African (AFR) AF: 0.522 AC: 21339 AN: 40884

American (AMR) AF: 0.634 AC: 9564 AN: 15096

Ashkenazi Jewish (ASJ) AF: 0.614 AC: 2100 AN: 3420

East Asian (EAS) AF: 0.652 AC: 3315 AN: 5088

South Asian (SAS) AF: 0.413 AC: 1963 AN: 4754

European-Finnish (FIN) AF: 0.617 AC: 6395 AN: 10372

Middle Eastern (MID) AF: 0.592 AC: 173 AN: 292

European-Non Finnish (NFE) AF: 0.500 AC: 33466 AN: 66972

Other (OTH) AF: 0.556 AC: 1151 AN: 2072

Alfa AF: 0.525 Hom.: 2766

Bravo AF: 0.543

Asia WGS AF: 0.596 AC: 2079 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.7
DANN	Benign	0.38
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs9275292; hg19: chr6-32663289;