10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTTTT

Variant names:

• chr10-70170920-C-CT
• 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 0.29 (3580 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 (NFE) allele frequency at 95% confidence interval = 0.315 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: 0.290 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

African (AFR) AF: 0.284 AC: 4661 AN: 16430

American (AMR) AF: 0.231 AC: 1265 AN: 5476

Ashkenazi Jewish (ASJ) AF: 0.262 AC: 608 AN: 2322

East Asian (EAS) AF: 0.0108 AC: 22 AN: 2042

South Asian (SAS) AF: 0.220 AC: 360 AN: 1634

European-Finnish (FIN) AF: 0.211 AC: 193 AN: 916

Middle Eastern (MID) AF: 0.203 AC: 15 AN: 74

European-Non Finnish (NFE) AF: 0.319 AC: 13491 AN: 42282

Other (OTH) AF: 0.290 AC: 268 AN: 924

Alfa AF: 0.170 Hom.: 236

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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;