rs3998225

Variant names:

• chr10-73949409-TTTTATTTATTTATTTATTTATTTATTTA-T
• rs3998225

Your query was ambiguous. Multiple possible variants found:

• chr10-73949409-TTTTATTTATTTATTTATTTATTTATTTA-T
• chr10-73949409-TTTTATTTATTTATTTATTTATTTATTTA-TTTTA
• chr10-73949409-TTTTATTTATTTATTTATTTATTTATTTA-TTTTATTTA
• chr10-73949409-TTTTATTTATTTATTTATTTATTTATTTA-TTTTATTTATTTA
• chr10-73949409-TTTTATTTATTTATTTATTTATTTATTTA-TTTTATTTATTTATTTA
• chr10-73949409-TTTTATTTATTTATTTATTTATTTATTTA-TTTTATTTATTTATTTATTTA
• chr10-73949409-TTTTATTTATTTATTTATTTATTTATTTA-TTTTATTTATTTATTTATTTATTTA
• chr10-73949409-TTTTATTTATTTATTTATTTATTTATTTA-TTTTATTTATTTATTTATTTATTTATTTATTTA
• chr10-73949409-TTTTATTTATTTATTTATTTATTTATTTA-TTTTATTTATTTATTTATTTATTTATTTATTTATTTA

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.000015 (0 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.639
• Publications: 2 publications found

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.0000148 AC: 2 AN: 134928 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.0000277

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000245

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.0000148 AC: 2 AN: 134928 Hom.: 0 Cov.: 0 AF XY: 0.0000310 AC XY: 2 AN XY: 64574

African (AFR) AF: 0.0000277 AC: 1 AN: 36064

American (AMR) AF: 0.00 AC: 0 AN: 13062

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3316

East Asian (EAS) AF: 0.00 AC: 0 AN: 4592

South Asian (SAS) AF: 0.000245 AC: 1 AN: 4086

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 7092

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 300

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 63830

Other (OTH) AF: 0.00 AC: 0 AN: 1752

Alfa AF: 0.00 Hom.: 738

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.64

Splicing

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

Other links and lift over

dbSNP: rs3998225; hg19: chr10-75709167;