10-70170920-CTTTTTTTTTTTT-CTTT

Variant names:

• chr10-70170920-CTTTTTTTTT-C
• rs5785963

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1 BS2

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

• Frequency: Genomes: 𝑓 0.011 (10 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.46

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BS1: Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0107 (782/73166) while in subpopulation AFR AF= 0.0417 (694/16626). AF 95% confidence interval is 0.0392. There are 10 homozygotes in gnomad4. There are 384 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
• BS2: High Homozygotes in GnomAd4 at 10 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: 0.0107 AC: 782 AN: 73154 Hom.: 10 Cov.: 0

Gnomad AFR AF: 0.0418

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00892

Gnomad ASJ AF: 0.000427

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00120

Gnomad FIN AF: 0.00108

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000588

Gnomad OTH AF: 0.0109

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

GnomAD4 genome AF: 0.0107 AC: 782 AN: 73166 Hom.: 10 Cov.: 0 AF XY: 0.0119 AC XY: 384 AN XY: 32208

Gnomad4 AFR AF: 0.0417

Gnomad4 AMR AF: 0.00891

Gnomad4 ASJ AF: 0.000427

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00121

Gnomad4 FIN AF: 0.00108

Gnomad4 NFE AF: 0.000589

Gnomad4 OTH AF: 0.0108

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;