7-142307367-AGTGTGTGTGTGTGTGTGT-AGTGTGTGTGTGTGT

Variant names:

• chr7-142307367-AGTGT-A
• rs3222967

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BS2

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.0030 (3 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: Likely_benign. The variant received -4 ACMG points.

• BS2: High Homozygotes in GnomAd4 at 3 gene

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: 0.00299 AC: 437 AN: 146218 Hom.: 3 Cov.: 0

Gnomad AFR AF: 0.00895

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00279

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000445

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000542

Gnomad OTH AF: 0.00201

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

GnomAD4 genome AF: 0.00300 AC: 439 AN: 146324 Hom.: 3 Cov.: 0 AF XY: 0.00283 AC XY: 201 AN XY: 71052

African (AFR) AF: 0.00897 AC: 356 AN: 39684

American (AMR) AF: 0.00279 AC: 41 AN: 14694

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3424

East Asian (EAS) AF: 0.00 AC: 0 AN: 4900

South Asian (SAS) AF: 0.000446 AC: 2 AN: 4486

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 9562

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 288

European-Non Finnish (NFE) AF: 0.000542 AC: 36 AN: 66376

Other (OTH) AF: 0.00199 AC: 4 AN: 2008

Alfa AF: 0.00 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;