10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTTTTTT

Variant names:

• chr10-70170920-C-CTTT
• rs5785963

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

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

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: 0.0427 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

Gnomad4 AFR AF: 0.0648

Gnomad4 AMR AF: 0.0178

Gnomad4 ASJ AF: 0.0299

Gnomad4 EAS AF: 0.00485

Gnomad4 SAS AF: 0.0291

Gnomad4 FIN AF: 0.0184

Gnomad4 NFE AF: 0.0414

Gnomad4 OTH AF: 0.0304

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;