chr7-142307367-A-AGT

Variant names:

• chr7-142307367-A-AGT
• 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 0.12 (1599 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 (AFR) allele frequency at 95% confidence interval = 0.25 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: 0.125 AC: 18139 AN: 145492 Hom.: 1597 Cov.: 0

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.: 0 AF XY: 0.128 AC XY: 9062 AN XY: 70626

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: 9 AN: 286

European-Non Finnish (NFE) AF: 0.0612 AC: 4042 AN: 66080

Other (OTH) AF: 0.105 AC: 209 AN: 1998

Alfa AF: 0.103 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;