Genetic Variant TRB:n.142307399_142307400dupTG (chr7-142307367-A-AGT) – 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 0.12 ( 1599 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: Benign. The variant received -8 ACMG points.

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.25 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TRB		n.142307399_142307400dupTG		intragenic_variant

Ensembl

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

Frequencies

GnomAD3 genomes

AF:

0.125

AC:

18139

AN:

145492

Hom.:

1597

Cov.:

show subpopulations

Gnomad AFR

AF:

0.254

Gnomad AMI

AF:

0.0222

Gnomad AMR

AF:

0.0855

Gnomad ASJ

AF:

0.0319

Gnomad EAS

AF:

0.133

Gnomad SAS

AF:

0.0921

Gnomad FIN

AF:

0.150

Gnomad MID

AF:

0.0422

Gnomad NFE

AF:

0.0612

Gnomad OTH

AF:

0.105

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

GnomAD4 genome

AF:

0.125

AC:

18163

AN:

145594

Hom.:

1599

Cov.:

AF XY:

0.128

AC XY:

9062

AN XY:

70626

show subpopulations

African (AFR)

AF:

0.254

AC:

10070

AN:

39622

American (AMR)

AF:

0.0855

AC:

1249

AN:

14604

Ashkenazi Jewish (ASJ)

AF:

0.0319

AC:

109

AN:

3414

East Asian (EAS)

AF:

0.133

AC:

648

AN:

4888

South Asian (SAS)

AF:

0.0920

AC:

412

AN:

4478

European-Finnish (FIN)

AF:

0.150

AC:

1395

AN:

9324

Middle Eastern (MID)

AF:

0.0315

AC:

AN:

286

European-Non Finnish (NFE)

AF:

0.0612

AC:

4042

AN:

66080

Other (OTH)

AF:

0.105

AC:

209

AN:

1998

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.500

Heterozygous variant carriers

704

1408

2113

2817

3521

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Alfa

AF:

0.103

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-AGTGTGTGTGTGTGTGTGTGT

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