GeneBe

chr11-102845217-A-AC

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The variant allele was found at a frequency of 0.0000438 in 22,848 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.000044 ( 0 hom., cov: 33)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.343

Publications

188 publications found
Variant links:

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ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

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

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:
0.0000438
AC:
1
AN:
22848
Hom.:
0
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.0111
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00
Gnomad OTH
AF:
0.00
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0000438
AC:
1
AN:
22848
Hom.:
0
Cov.:
33
AF XY:
0.0000927
AC XY:
1
AN XY:
10786
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
568
American (AMR)
AF:
0.00
AC:
0
AN:
1796
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
514
East Asian (EAS)
AF:
0.0111
AC:
1
AN:
90
South Asian (SAS)
AF:
0.00
AC:
0
AN:
270
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
1648
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
54
European-Non Finnish (NFE)
AF:
0.00
AC:
0
AN:
17408
Other (OTH)
AF:
0.00
AC:
0
AN:
336
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.625
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Variant carriers
0
2
4
6
8
10
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
0.00
Hom.:
0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
-0.34

Splicing

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

Publications

Other links and lift over

dbSNP: rs3025058; hg19: chr11-102715948; API