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rs3219790

chr16-10183567-GACACACACACACACACAC-Gchr16-10183567-GACACACACACACACACAC-GACchr16-10183567-GACACACACACACACACAC-GACACchr16-10183567-GACACACACACACACACAC-GACACACchr16-10183567-GACACACACACACACACAC-GACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACACACACACACACchr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The variant allele was found at a frequency of 0.00000797 in 125,464 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.0000080 ( 0 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 3.35
Variant links:

Genome browser will be placed here

ACMG classification

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
?
    PM2 - Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt

Frequencies

GnomAD3 genomes
?
    Genome Aggregation Database, over 76,156 genomes
AF:
0.00000797
AC:
1
AN:
125464
Hom.:
0
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000167
Gnomad OTH
AF:
0.00
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
?
    Genome Aggregation Database, over 76,156 genomes
AF:
0.00000797
AC:
1
AN:
125464
Hom.:
0
Cov.:
0
AF XY:
0.00
AC XY:
0
AN XY:
59346
show subpopulations
Gnomad4 AFR
AF:
0.00
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.0000167
Gnomad4 OTH
AF:
0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs3219790; hg19: chr16-10277424; API