10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTTTTTTTTT

Variant names:

• chr10-70170920-C-CTTTTTT
• rs5785963

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

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

• Frequency: Genomes: 𝑓 0.0039 (22 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.120

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BS2: High Homozygotes in GnomAd4 at 22 gene

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: 0.00386 AC: 282 AN: 73076 Hom.: 22 Cov.: 0

Gnomad AFR AF: 0.0116

Gnomad AMI AF: 0.00172

Gnomad AMR AF: 0.00127

Gnomad ASJ AF: 0.00214

Gnomad EAS AF: 0.000484

Gnomad SAS AF: 0.00181

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00167

Gnomad OTH AF: 0.00328

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

GnomAD4 genome AF: 0.00386 AC: 282 AN: 73088 Hom.: 22 Cov.: 0 AF XY: 0.00395 AC XY: 127 AN XY: 32176

Gnomad4 AFR AF: 0.0115

Gnomad4 AMR AF: 0.00127

Gnomad4 ASJ AF: 0.00214

Gnomad4 EAS AF: 0.000486

Gnomad4 SAS AF: 0.00182

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.00167

Gnomad4 OTH AF: 0.00325

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: rs5785963; hg19: chr10-71930676;