rs9271348

Variant names:

• chr6-32615965-G-A
• rs9271348

Your query was ambiguous. Multiple possible variants found:

• chr6-32615965-G-A
• chr6-32615965-G-C
• chr6-32615965-G-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 0.739 in 151,916 control chromosomes in the GnomAD database, including 41,720 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 (41720 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.946
• Publications: 29 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.796 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: 0.739 AC: 112121 AN: 151798 Hom.: 41669 Cov.: 30

Gnomad AFR AF: 0.734

Gnomad AMI AF: 0.689

Gnomad AMR AF: 0.802

Gnomad ASJ AF: 0.803

Gnomad EAS AF: 0.817

Gnomad SAS AF: 0.608

Gnomad FIN AF: 0.816

Gnomad MID AF: 0.775

Gnomad NFE AF: 0.715

Gnomad OTH AF: 0.746

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

GnomAD4 genome AF: 0.739 AC: 112231 AN: 151916 Hom.: 41720 Cov.: 30 AF XY: 0.742 AC XY: 55105 AN XY: 74256

African (AFR) AF: 0.734 AC: 30413 AN: 41416

American (AMR) AF: 0.802 AC: 12252 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.803 AC: 2787 AN: 3470

East Asian (EAS) AF: 0.817 AC: 4195 AN: 5134

South Asian (SAS) AF: 0.610 AC: 2934 AN: 4812

European-Finnish (FIN) AF: 0.816 AC: 8622 AN: 10566

Middle Eastern (MID) AF: 0.793 AC: 233 AN: 294

European-Non Finnish (NFE) AF: 0.715 AC: 48593 AN: 67930

Other (OTH) AF: 0.747 AC: 1576 AN: 2110

Alfa AF: 0.728 Hom.: 59533

Bravo AF: 0.739

Asia WGS AF: 0.710 AC: 2474 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	6.3
DANN	Benign	0.41
PhyloP100		-0.95

Splicing

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

Other links and lift over

dbSNP: rs9271348; hg19: chr6-32583742;