rs168

Positions:

• chr7-25007152-T-TG

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 0.85 (55271 hom., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.481

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.931 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.25007152_25007153insG		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.849 AC: 129130 AN: 152030 Hom.: 55204 Cov.: 0

Gnomad AFR AF: 0.938

Gnomad AMI AF: 0.709

Gnomad AMR AF: 0.870

Gnomad ASJ AF: 0.804

Gnomad EAS AF: 0.836

Gnomad SAS AF: 0.932

Gnomad FIN AF: 0.768

Gnomad MID AF: 0.908

Gnomad NFE AF: 0.802

Gnomad OTH AF: 0.855

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

GnomAD4 genome AF: 0.850 AC: 129256 AN: 152146 Hom.: 55271 Cov.: 0 AF XY: 0.851 AC XY: 63324 AN XY: 74368

Gnomad4 AFR AF: 0.939

Gnomad4 AMR AF: 0.870

Gnomad4 ASJ AF: 0.804

Gnomad4 EAS AF: 0.836

Gnomad4 SAS AF: 0.932

Gnomad4 FIN AF: 0.768

Gnomad4 NFE AF: 0.802

Gnomad4 OTH AF: 0.856

Alfa AF: 0.832 Hom.: 6425

Bravo AF: 0.858

Asia WGS AF: 0.890 AC: 3097 AN: 3478

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: rs168; hg19: chr7-25046771;