chr19-39245644-C-CATATATATATATATAT

Variant names:

• chr19-39245644-C-CATATATATATATATAT
• 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 INS_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 0.00031 (0 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.240
• 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: 0.000313 AC: 43 AN: 137548 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000323

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0000751

Gnomad ASJ AF: 0.00269

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000242

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000296

Gnomad OTH AF: 0.000527

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

GnomAD4 genome AF: 0.000313 AC: 43 AN: 137600 Hom.: 0 Cov.: 0 AF XY: 0.000273 AC XY: 18 AN XY: 66024

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.000322 AC: 12 AN: 37280

American (AMR) AF: 0.0000750 AC: 1 AN: 13340

Ashkenazi Jewish (ASJ) AF: 0.00269 AC: 9 AN: 3344

East Asian (EAS) AF: 0.00 AC: 0 AN: 4562

South Asian (SAS) AF: 0.000243 AC: 1 AN: 4110

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 7660

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 270

European-Non Finnish (NFE) AF: 0.000296 AC: 19 AN: 64266

Other (OTH) AF: 0.000524 AC: 1 AN: 1908

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0.00000000115916), which strongly suggests a high chance of mosaicism in these individuals.

Alfa AF: 0.00 Hom.: 677

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.24

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;