10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTTTTTT

Variant names:

• chr10-70170920-C-CTTT
• rs5785963

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

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

• Frequency: Genomes: 𝑓 0.043 (128 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.120
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0616 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.0427 AC: 3121 AN: 73034 Hom.: 128 Cov.: 0

Gnomad AFR AF: 0.0648

Gnomad AMI AF: 0.0361

Gnomad AMR AF: 0.0179

Gnomad ASJ AF: 0.0299

Gnomad EAS AF: 0.00484

Gnomad SAS AF: 0.0289

Gnomad FIN AF: 0.0184

Gnomad MID AF: 0.0250

Gnomad NFE AF: 0.0414

Gnomad OTH AF: 0.0306

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

GnomAD4 genome AF: 0.0427 AC: 3122 AN: 73046 Hom.: 128 Cov.: 0 AF XY: 0.0414 AC XY: 1330 AN XY: 32150

African (AFR) AF: 0.0648 AC: 1072 AN: 16550

American (AMR) AF: 0.0178 AC: 98 AN: 5492

Ashkenazi Jewish (ASJ) AF: 0.0299 AC: 70 AN: 2342

East Asian (EAS) AF: 0.00485 AC: 10 AN: 2060

South Asian (SAS) AF: 0.0291 AC: 48 AN: 1650

European-Finnish (FIN) AF: 0.0184 AC: 17 AN: 926

Middle Eastern (MID) AF: 0.0270 AC: 2 AN: 74

European-Non Finnish (NFE) AF: 0.0414 AC: 1756 AN: 42448

Other (OTH) AF: 0.0304 AC: 28 AN: 922

Alfa AF: 0.0303 Hom.: 236

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;