chr10-70170920-C-CTTTTTT

Position:

• chr10-70170920-C-CTTTTTT

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 0.0039 (22 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 22 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: 0.00386 AC: 282 AN: 73076 Hom.: 22 Cov.: 0

Gnomad AFR AF: 0.0116

Gnomad AMI AF: 0.00172

Gnomad AMR AF: 0.00127

Gnomad ASJ AF: 0.00214

Gnomad EAS AF: 0.000484

Gnomad SAS AF: 0.00181

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00167

Gnomad OTH AF: 0.00328

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

GnomAD4 genome AF: 0.00386 AC: 282 AN: 73088 Hom.: 22 Cov.: 0 AF XY: 0.00395 AC XY: 127 AN XY: 32176

Gnomad4 AFR AF: 0.0115

Gnomad4 AMR AF: 0.00127

Gnomad4 ASJ AF: 0.00214

Gnomad4 EAS AF: 0.000486

Gnomad4 SAS AF: 0.00182

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.00167

Gnomad4 OTH AF: 0.00325

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;