Genetic Variant TRB:n.142307391_142307400dupTGTGTGTGTG (chr7-142307367-A-AGTGTGTGTGT) – ACMG Classification: Likely_benign (-4 pts)

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 0.0026 ( 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

TRB (HGNC:12155):

TRB links:

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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.142307391_142307400dupTGTGTGTGTG		intragenic_variant

Ensembl

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

Frequencies

GnomAD3 genomes

AF:

0.00264

AC:

386

AN:

146220

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.00574

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00170

Gnomad ASJ

AF:

0.0126

Gnomad EAS

AF:

0.000407

Gnomad SAS

AF:

0.00556

Gnomad FIN

AF:

0.000209

Gnomad MID

AF:

0.00325

Gnomad NFE

AF:

0.000844

Gnomad OTH

AF:

0.00252

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

GnomAD4 genome

AF:

0.00263

AC:

385

AN:

146326

Hom.:

Cov.:

AF XY:

0.00293

AC XY:

208

AN XY:

71052

show subpopulations

African (AFR)

AF:

0.00572

AC:

227

AN:

39688

American (AMR)

AF:

0.00170

AC:

AN:

14692

Ashkenazi Jewish (ASJ)

AF:

0.0126

AC:

AN:

3424

East Asian (EAS)

AF:

0.000408

AC:

AN:

4900

South Asian (SAS)

AF:

0.00535

AC:

AN:

4486

European-Finnish (FIN)

AF:

0.000209

AC:

AN:

9562

Middle Eastern (MID)

AF:

0.00347

AC:

AN:

288

European-Non Finnish (NFE)

AF:

0.000844

AC:

AN:

66376

Other (OTH)

AF:

0.00249

AC:

AN:

2008

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.499

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

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

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7-142307367-AGTGTGTGTGTGTGTGTGT-AGTGTGTGTGTGTGTGTGTGTGTGTGTGT

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