Genetic Variant TRB:n.142307395_142307400dupTGTGTG (chr7-142307367-A-AGTGTGT) – 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 0.050 ( 257 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 (AFR) allele frequency at 95% confidence interval = 0.0992 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TRB		n.142307395_142307400dupTGTGTG		intragenic_variant

Ensembl

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

Frequencies

GnomAD3 genomes

AF:

0.0504

AC:

7368

AN:

146086

Hom.:

258

Cov.:

show subpopulations

Gnomad AFR

AF:

0.102

Gnomad AMI

AF:

0.0922

Gnomad AMR

AF:

0.0349

Gnomad ASJ

AF:

0.0964

Gnomad EAS

AF:

0.0495

Gnomad SAS

AF:

0.0582

Gnomad FIN

AF:

0.00576

Gnomad MID

AF:

0.0455

Gnomad NFE

AF:

0.0262

Gnomad OTH

AF:

0.0509

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

GnomAD4 genome

AF:

0.0504

AC:

7372

AN:

146196

Hom.:

257

Cov.:

AF XY:

0.0487

AC XY:

3458

AN XY:

70988

show subpopulations

African (AFR)

AF:

0.102

AC:

4038

AN:

39644

American (AMR)

AF:

0.0349

AC:

512

AN:

14678

Ashkenazi Jewish (ASJ)

AF:

0.0964

AC:

330

AN:

3422

East Asian (EAS)

AF:

0.0496

AC:

243

AN:

4896

South Asian (SAS)

AF:

0.0587

AC:

263

AN:

4478

European-Finnish (FIN)

AF:

0.00576

AC:

AN:

9546

Middle Eastern (MID)

AF:

0.0451

AC:

AN:

288

European-Non Finnish (NFE)

AF:

0.0262

AC:

1735

AN:

66338

Other (OTH)

AF:

0.0499

AC:

100

AN:

2006

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.495

Heterozygous variant carriers

318

636

954

1272

1590

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Alfa

AF:

0.0147

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-AGTGTGTGTGTGTGTGTGTGTGTGT

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