chr10-70170920-C-CTTTT

Variant names:

• chr10-70170920-C-CTTTT
• 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 0.011 (13 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 13 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: 0.0114 AC: 830 AN: 73064 Hom.: 13 Cov.: 0

Gnomad AFR AF: 0.0126

Gnomad AMI AF: 0.0155

Gnomad AMR AF: 0.00546

Gnomad ASJ AF: 0.00854

Gnomad EAS AF: 0.00967

Gnomad SAS AF: 0.00662

Gnomad FIN AF: 0.00431

Gnomad MID AF: 0.0250

Gnomad NFE AF: 0.0123

Gnomad OTH AF: 0.00438

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

GnomAD4 genome AF: 0.0114 AC: 830 AN: 73076 Hom.: 13 Cov.: 0 AF XY: 0.0109 AC XY: 350 AN XY: 32164

Gnomad4 AFR AF: 0.0126

Gnomad4 AMR AF: 0.00545

Gnomad4 ASJ AF: 0.00854

Gnomad4 EAS AF: 0.00971

Gnomad4 SAS AF: 0.00666

Gnomad4 FIN AF: 0.00431

Gnomad4 NFE AF: 0.0123

Gnomad4 OTH AF: 0.00434

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;