7-142307367-AGTGTGTGTGTGTGTGTGT-AGTGTGTGTGTGTGTGTGTGTGT

Position:

• chr7-142307367-AGTGTGTGTGTGTGTGTGT-AGTGTGTGTGTGTGTGTGTGTGT

Variant summary

Our verdict is Benign. Variant got -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: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.60

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.791 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.142307367_142307368insGTGT		intergenic_region
TRB		n.142307397_142307400dupTGTG		intragenic_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.373

Gnomad4 AMR AF: 0.775

Gnomad4 ASJ AF: 0.741

Gnomad4 EAS AF: 0.612

Gnomad4 SAS AF: 0.663

Gnomad4 FIN AF: 0.706

Gnomad4 NFE AF: 0.796

Gnomad4 OTH AF: 0.691

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3222967; hg19: chr7-142007188;