GeneBe

11-64304830-C-CGTGACCTTCATTCGGTCACCGCAGTGACCTTCATTCGGTCACCGCA

Position:

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The variant allele was found at a frequency of 0.000345 in 544,834 control chromosomes in the GnomAD database, including 1 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.0010 ( 1 hom., cov: 32)
Exomes 𝑓: 0.000086 ( 0 hom. )

Consequence


intergenic_region

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.922
Variant links:
Genes affected

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
use as main transcriptn.64304830_64304831insGTGACCTTCATTCGGTCACCGCAGTGACCTTCATTCGGTCACCGCA intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes
AF:
0.00103
AC:
154
AN:
150064
Hom.:
1
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.000586
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000528
Gnomad ASJ
AF:
0.000583
Gnomad EAS
AF:
0.000591
Gnomad SAS
AF:
0.000212
Gnomad FIN
AF:
0.000479
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00161
Gnomad OTH
AF:
0.00145
GnomAD4 exome
AF:
0.0000862
AC:
34
AN:
394654
Hom.:
0
AF XY:
0.0000722
AC XY:
15
AN XY:
207804
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.0000639
Gnomad4 ASJ exome
AF:
0.0000846
Gnomad4 EAS exome
AF:
0.0000371
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.0000771
Gnomad4 NFE exome
AF:
0.0000961
Gnomad4 OTH exome
AF:
0.000217
GnomAD4 genome
AF:
0.00103
AC:
154
AN:
150180
Hom.:
1
Cov.:
32
AF XY:
0.000981
AC XY:
72
AN XY:
73364
show subpopulations
Gnomad4 AFR
AF:
0.000584
Gnomad4 AMR
AF:
0.000527
Gnomad4 ASJ
AF:
0.000583
Gnomad4 EAS
AF:
0.000593
Gnomad4 SAS
AF:
0.000212
Gnomad4 FIN
AF:
0.000479
Gnomad4 NFE
AF:
0.00161
Gnomad4 OTH
AF:
0.00144

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs3217060; hg19: chr11-64072302; API