GeneBe

chr1-12164239-TC-T

Variant names:

Variant summary

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

The variant allele was found at a frequency of 0.000129 in 147,486 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 0.00013 ( 0 hom., cov: 31)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.507

Publications

1 publications found
Variant links:

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ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

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:
0.000129
AC:
19
AN:
147382
Hom.:
0
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.000201
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.0000679
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.000597
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000899
Gnomad OTH
AF:
0.000502
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.000129
AC:
19
AN:
147486
Hom.:
0
Cov.:
31
AF XY:
0.0000696
AC XY:
5
AN XY:
71812
show subpopulations
African (AFR)
AF:
0.000201
AC:
8
AN:
39828
American (AMR)
AF:
0.0000678
AC:
1
AN:
14750
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
3434
East Asian (EAS)
AF:
0.000599
AC:
3
AN:
5010
South Asian (SAS)
AF:
0.00
AC:
0
AN:
4650
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
9904
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
288
European-Non Finnish (NFE)
AF:
0.0000899
AC:
6
AN:
66724
Other (OTH)
AF:
0.000497
AC:
1
AN:
2012
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.514
Heterozygous variant carriers
0
1
2
3
4
5
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:
0.0000561
Hom.:
2
Bravo
AF:
0.000110

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
-0.51

Splicing

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

Publications

Other links and lift over

dbSNP: rs35752907; hg19: chr1-12224296; API