10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTTTT

Position:

• chr10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTTTT

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 0.29 (3580 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 (NFE) allele frequency at 95% confidence interval = 0.315 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.290 AC: 21040 AN: 72670 Hom.: 3580 Cov.: 0

Gnomad AFR AF: 0.284

Gnomad AMI AF: 0.255

Gnomad AMR AF: 0.231

Gnomad ASJ AF: 0.262

Gnomad EAS AF: 0.0107

Gnomad SAS AF: 0.222

Gnomad FIN AF: 0.211

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.319

Gnomad OTH AF: 0.293

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

GnomAD4 genome AF: 0.289 AC: 21032 AN: 72684 Hom.: 3580 Cov.: 0 AF XY: 0.284 AC XY: 9092 AN XY: 31982

Gnomad4 AFR AF: 0.284

Gnomad4 AMR AF: 0.231

Gnomad4 ASJ AF: 0.262

Gnomad4 EAS AF: 0.0108

Gnomad4 SAS AF: 0.220

Gnomad4 FIN AF: 0.211

Gnomad4 NFE AF: 0.319

Gnomad4 OTH AF: 0.290

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;