Genetic Variant :null (chr19-39245644-C-CATATATATAT) – ACMG Classification: Uncertain_significance (0 pts)

Variant summary

Our verdict is Uncertain significance. The variant received 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

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.240

Publications

1 publications found

Variant links:

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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:

0.00152

AC:

209

AN:

137572

Hom.:

Cov.:

show subpopulations

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.:

Cov.:

AF XY:

0.00156

AC XY:

103

AN XY:

66030

show subpopulations

African (AFR)

AF:

0.00233

AC:

AN:

37266

American (AMR)

AF:

0.000974

AC:

AN:

13346

Ashkenazi Jewish (ASJ)

AF:

0.00418

AC:

AN:

3346

East Asian (EAS)

AF:

0.00110

AC:

AN:

4562

South Asian (SAS)

AF:

0.00121

AC:

AN:

4116

European-Finnish (FIN)

AF:

0.00144

AC:

AN:

7658

Middle Eastern (MID)

AF:

0.00370

AC:

AN:

270

European-Non Finnish (NFE)

AF:

0.00107

AC:

AN:

64292

Other (OTH)

AF:

0.00157

AC:

AN:

1908

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.430

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

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

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over