GeneBe

7-142307367-AGTGTGTGTGTGTGTGTGT-AGTGTGTGTGTGTGT

Variant names:

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BS2

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.0030 ( 3 hom., cov: 0)

Consequence

TRB
intragenic

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.60

Publications

1 publications found
Variant links:
Genes affected

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Likely_benign. The variant received -4 ACMG points.

BS2
High Homozygotes in GnomAd4 at 3 gene

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
TRB n.142307397_142307400delTGTG intragenic_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.00299
AC:
437
AN:
146218
Hom.:
3
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.00895
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00279
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.000445
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.000542
Gnomad OTH
AF:
0.00201
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.00300
AC:
439
AN:
146324
Hom.:
3
Cov.:
0
AF XY:
0.00283
AC XY:
201
AN XY:
71052
show subpopulations
African (AFR)
AF:
0.00897
AC:
356
AN:
39684
American (AMR)
AF:
0.00279
AC:
41
AN:
14694
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
3424
East Asian (EAS)
AF:
0.00
AC:
0
AN:
4900
South Asian (SAS)
AF:
0.000446
AC:
2
AN:
4486
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
9562
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
288
European-Non Finnish (NFE)
AF:
0.000542
AC:
36
AN:
66376
Other (OTH)
AF:
0.00199
AC:
4
AN:
2008
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.512
Heterozygous variant carriers
0
21
41
62
82
103
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
4
8
12
16
20
<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.:
1268

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
1.6

Splicing

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

Publications

Other links and lift over

dbSNP: rs3222967; hg19: chr7-142007188; API