7-142307367-AGTGTGTGTGTGTGTGTGT-AGTGTGTGTGTGTGTGTGTGTGTGT

Variant names:

• chr7-142307367-A-AGTGTGT
• 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 0.050 (257 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 = 0.0992 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: 0.0504 AC: 7368 AN: 146086 Hom.: 258 Cov.: 0

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.: 0 AF XY: 0.0487 AC XY: 3458 AN XY: 70988

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: 55 AN: 9546

Middle Eastern (MID) AF: 0.0451 AC: 13 AN: 288

European-Non Finnish (NFE) AF: 0.0262 AC: 1735 AN: 66338

Other (OTH) AF: 0.0499 AC: 100 AN: 2006

Alfa AF: 0.0147 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;