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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.739 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

Gnomad4 AFR AF: 0.734

Gnomad4 AMR AF: 0.802

Gnomad4 ASJ AF: 0.803

Gnomad4 EAS AF: 0.817

Gnomad4 SAS AF: 0.610

Gnomad4 FIN AF: 0.816

Gnomad4 NFE AF: 0.715

Gnomad4 OTH AF: 0.747

Alfa AF: 0.730 Hom.: 32753

Bravo AF: 0.739

Asia WGS AF: 0.710 AC: 2474 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	6.3
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: rs9271348; hg19: chr6-32583742;