Genetic Variant TRB:n.142307393_142307400dupTGTGTGTG (chr7-142307367-A-AGTGTGTGT) – ACMG Classification: Benign (-8 pts)

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BS1BS2

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

Frequency

Genomes: 𝑓 0.023 ( 48 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.

BS1

Variant frequency is greater than expected in population nfe. GnomAd4 allele frequency = 0.0229 (3356/146284) while in subpopulation NFE AF = 0.0266 (1765/66356). AF 95% confidence interval is 0.0256. There are 48 homozygotes in GnomAd4. There are 1646 alleles in the male GnomAd4 subpopulation. Median coverage is 0. This position passed quality control check.

BS2

High Homozygotes in GnomAd4 at 48 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TRB		n.142307393_142307400dupTGTGTGTG		intragenic_variant

Ensembl

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

Frequencies

GnomAD3 genomes

AF:

0.0229

AC:

3351

AN:

146178

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0181

Gnomad AMI

AF:

0.0576

Gnomad AMR

AF:

0.0236

Gnomad ASJ

AF:

0.0193

Gnomad EAS

AF:

0.00733

Gnomad SAS

AF:

0.0220

Gnomad FIN

AF:

0.0220

Gnomad MID

AF:

0.0227

Gnomad NFE

AF:

0.0266

Gnomad OTH

AF:

0.0267

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

GnomAD4 genome

AF:

0.0229

AC:

3356

AN:

146284

Hom.:

Cov.:

AF XY:

0.0232

AC XY:

1646

AN XY:

71020

show subpopulations

African (AFR)

AF:

0.0181

AC:

718

AN:

39680

American (AMR)

AF:

0.0238

AC:

349

AN:

14688

Ashkenazi Jewish (ASJ)

AF:

0.0193

AC:

AN:

3424

East Asian (EAS)

AF:

0.00735

AC:

AN:

4900

South Asian (SAS)

AF:

0.0223

AC:

100

AN:

4482

European-Finnish (FIN)

AF:

0.0220

AC:

210

AN:

9556

Middle Eastern (MID)

AF:

0.0243

AC:

AN:

288

European-Non Finnish (NFE)

AF:

0.0266

AC:

1765

AN:

66356

Other (OTH)

AF:

0.0264

AC:

AN:

2008

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.496

Heterozygous variant carriers

146

291

437

582

728

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Alfa

AF:

0.0199

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

You must be logged in to view publications. This limit was set because tens of millions (!) of queries from AI bots are generated daily.

chr7-142307367-A-AGTGTGTGT

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