10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Variant names:

• chr10-70170920-C-CTTTTTTTTTTTTTTTTT
• rs5785963

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 INS_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 0.000027 (1 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.120
• Publications: 1 publications found

ACMG classification

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

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.0000274 AC: 2 AN: 73072 Hom.: 1 Cov.: 0

Gnomad AFR AF: 0.00

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000471

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.0000274 AC: 2 AN: 73072 Hom.: 1 Cov.: 0 AF XY: 0.0000622 AC XY: 2 AN XY: 32166

African (AFR) AF: 0.00 AC: 0 AN: 16520

American (AMR) AF: 0.00 AC: 0 AN: 5494

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 2340

East Asian (EAS) AF: 0.00 AC: 0 AN: 2066

South Asian (SAS) AF: 0.00 AC: 0 AN: 1662

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 928

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 80

European-Non Finnish (NFE) AF: 0.0000471 AC: 2 AN: 42484

Other (OTH) AF: 0.00 AC: 0 AN: 916

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs5785963; hg19: chr10-71930676;