rs6483327

chr11-94370301-G-Achr11-94370301-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 0.639 in 152,016 control chromosomes in the GnomAD database, including 31,463 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 0.64 (31463 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.17

ACMG classification

Verdict is Benign. Variant got -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 = 0.701 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.639 AC: 97080 AN: 151898 Hom.: 31452 Cov.: 32

Gnomad AFR AF: 0.526

Gnomad AMI AF: 0.815

Gnomad AMR AF: 0.712

Gnomad ASJ AF: 0.732

Gnomad EAS AF: 0.720

Gnomad SAS AF: 0.667

Gnomad FIN AF: 0.706

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.665

Gnomad OTH AF: 0.648

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

GnomAD4 genome AF: 0.639 AC: 97128 AN: 152016 Hom.: 31463 Cov.: 32 AF XY: 0.643 AC XY: 47781 AN XY: 74322

Gnomad4 AFR AF: 0.526

Gnomad4 AMR AF: 0.712

Gnomad4 ASJ AF: 0.732

Gnomad4 EAS AF: 0.720

Gnomad4 SAS AF: 0.665

Gnomad4 FIN AF: 0.706

Gnomad4 NFE AF: 0.665

Gnomad4 OTH AF: 0.652

Alfa AF: 0.662 Hom.: 67235

Bravo AF: 0.635

Asia WGS AF: 0.666 AC: 2320 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
Cadd	Benign	1.6
Dann	Benign	0.31

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6483327; hg19: chr11-94103467;