19-39245644-CATATATATATATATATAT-CATAT

Variant names:

• chr19-39245644-CATATATATATATAT-C
• rs67461793

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.094 (1638 hom., cov: 0)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.504
• Publications: 1 publications found

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

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: 0.0941 AC: 12950 AN: 137556 Hom.: 1632 Cov.: 0

Gnomad AFR AF: 0.289

Gnomad AMI AF: 0.0384

Gnomad AMR AF: 0.0327

Gnomad ASJ AF: 0.00538

Gnomad EAS AF: 0.000656

Gnomad SAS AF: 0.0155

Gnomad FIN AF: 0.0240

Gnomad MID AF: 0.00676

Gnomad NFE AF: 0.0206

Gnomad OTH AF: 0.0675

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0943 AC: 12978 AN: 137608 Hom.: 1638 Cov.: 0 AF XY: 0.0925 AC XY: 6108 AN XY: 66020

African (AFR) AF: 0.290 AC: 10787 AN: 37256

American (AMR) AF: 0.0326 AC: 435 AN: 13350

Ashkenazi Jewish (ASJ) AF: 0.00538 AC: 18 AN: 3346

East Asian (EAS) AF: 0.000658 AC: 3 AN: 4560

South Asian (SAS) AF: 0.0153 AC: 63 AN: 4114

European-Finnish (FIN) AF: 0.0240 AC: 184 AN: 7660

Middle Eastern (MID) AF: 0.00741 AC: 2 AN: 270

European-Non Finnish (NFE) AF: 0.0206 AC: 1325 AN: 64284

Other (OTH) AF: 0.0671 AC: 128 AN: 1908

Alfa AF: 0.0282 Hom.: 677

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.50

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs67461793; hg19: chr19-39736284;