19-39245644-CATATATATATATATATAT-CATATATATATATATATATATATATATAT

Position:

• chr19-39245644-CATATATATATATATATAT-CATATATATATATATATATATATATATAT

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

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

• Frequency: Genomes: 𝑓 0.0015 (1 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.240

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

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: 0.00152 AC: 209 AN: 137572 Hom.: 1 Cov.: 0

Gnomad AFR AF: 0.00237

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000975

Gnomad ASJ AF: 0.00418

Gnomad EAS AF: 0.00109

Gnomad SAS AF: 0.00121

Gnomad FIN AF: 0.00144

Gnomad MID AF: 0.00338

Gnomad NFE AF: 0.00107

Gnomad OTH AF: 0.00158

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

GnomAD4 genome AF: 0.00151 AC: 208 AN: 137624 Hom.: 1 Cov.: 0 AF XY: 0.00156 AC XY: 103 AN XY: 66030

Gnomad4 AFR AF: 0.00233

Gnomad4 AMR AF: 0.000974

Gnomad4 ASJ AF: 0.00418

Gnomad4 EAS AF: 0.00110

Gnomad4 SAS AF: 0.00121

Gnomad4 FIN AF: 0.00144

Gnomad4 NFE AF: 0.00107

Gnomad4 OTH AF: 0.00157

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: rs67461793; hg19: chr19-39736284;