Genetic Variant TRB:n.142307397_142307400dupTGTG (chr7-142307367-A-AGTGT) – ACMG Classification: Benign (-8 pts)

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

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

Frequency

Genomes: 𝑓 0.66 ( 34251 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

TRB (HGNC:12155):

TRB links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Benign. The variant received -8 ACMG points.

BA1

GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.791 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TRB		n.142307397_142307400dupTGTG		intragenic_variant

Ensembl

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

Frequencies

GnomAD3 genomes

AF:

0.661

AC:

96525

AN:

146038

Hom.:

34255

Cov.:

show subpopulations

Gnomad AFR

AF:

0.374

Gnomad AMI

AF:

0.790

Gnomad AMR

AF:

0.775

Gnomad ASJ

AF:

0.741

Gnomad EAS

AF:

0.612

Gnomad SAS

AF:

0.662

Gnomad FIN

AF:

0.706

Gnomad MID

AF:

0.815

Gnomad NFE

AF:

0.796

Gnomad OTH

AF:

0.693

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

AF:

0.661

AC:

96543

AN:

146144

Hom.:

34251

Cov.:

AF XY:

0.658

AC XY:

46676

AN XY:

70948

show subpopulations

African (AFR)

AF:

0.373

AC:

14795

AN:

39622

American (AMR)

AF:

0.775

AC:

11377

AN:

14684

Ashkenazi Jewish (ASJ)

AF:

0.741

AC:

2530

AN:

3416

East Asian (EAS)

AF:

0.612

AC:

2993

AN:

4890

South Asian (SAS)

AF:

0.663

AC:

2967

AN:

4478

European-Finnish (FIN)

AF:

0.706

AC:

6729

AN:

9534

Middle Eastern (MID)

AF:

0.819

AC:

236

AN:

288

European-Non Finnish (NFE)

AF:

0.796

AC:

52817

AN:

66324

Other (OTH)

AF:

0.691

AC:

1388

AN:

2008

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.503

Heterozygous variant carriers

1260

2520

3780

5040

6300

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Alfa

AF:

0.729

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

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chr7-142307367-A-AGTGT

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over