rs168

Variant names:

• chr7-25007152-T-TG
• rs168

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: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.481

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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;