chr10-70170920-C-CTTTT

Position:

• chr10-70170920-C-CTTTT

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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;