7-142307367-AGTGTGTGTGTGTGTGTGT-AGTGTGTGTGTGTGTGTGTGTGT

Variant names:

• chr7-142307367-A-AGTGT
• rs3222967

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
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.60
• Publications: 1 publications found

Genes affected

TRB (HGNC:12155):

ACMG classification

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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.661 AC: 96525 AN: 146038 Hom.: 34255 Cov.: 0

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.: 0 AF XY: 0.658 AC XY: 46676 AN XY: 70948

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

Alfa AF: 0.729 Hom.: 1268

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.6

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs3222967; hg19: chr7-142007188;