rs6483327

Variant names:

• chr11-94370301-G-A
• rs6483327

Your query was ambiguous. Multiple possible variants found:

• chr11-94370301-G-A
• chr11-94370301-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 0.639 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
• Publications: 9 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 = 0.701 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: 0.639 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

African (AFR) AF: 0.526 AC: 21797 AN: 41438

American (AMR) AF: 0.712 AC: 10885 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.732 AC: 2538 AN: 3468

East Asian (EAS) AF: 0.720 AC: 3710 AN: 5154

South Asian (SAS) AF: 0.665 AC: 3204 AN: 4818

European-Finnish (FIN) AF: 0.706 AC: 7463 AN: 10564

Middle Eastern (MID) AF: 0.694 AC: 204 AN: 294

European-Non Finnish (NFE) AF: 0.665 AC: 45209 AN: 67978

Other (OTH) AF: 0.652 AC: 1375 AN: 2110

Alfa AF: 0.655 Hom.: 105104

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
PhyloP100		1.2

Splicing

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

Other links and lift over

dbSNP: rs6483327; hg19: chr11-94103467;