10-70170920-CTTTTTTTTTTTT-CTTTTT

Variant names:

• chr10-70170920-CTTTTTTT-C
• rs5785963

Variant summary

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

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.00012 (0 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.46
• Publications: 1 publications found

ACMG classification

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

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: 0.000123 AC: 9 AN: 73076 Hom.: 0 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: 0.00435

Gnomad SAS AF: 0.00

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: 0.000123 AC: 9 AN: 73088 Hom.: 0 Cov.: 0 AF XY: 0.000218 AC XY: 7 AN XY: 32178

African (AFR) AF: 0.00 AC: 0 AN: 16544

American (AMR) AF: 0.00 AC: 0 AN: 5502

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

East Asian (EAS) AF: 0.00436 AC: 9 AN: 2062

South Asian (SAS) AF: 0.00 AC: 0 AN: 1652

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

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 74

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 42480

Other (OTH) AF: 0.00 AC: 0 AN: 924

Alfa AF: 0.00 Hom.: 236

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.5

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;