rs71092363
Your query was ambiguous. Multiple possible variants found:
- chr13-19467353-TAAAAAAAA-T
- chr13-19467353-TAAAAAAAA-TA
- chr13-19467353-TAAAAAAAA-TAA
- chr13-19467353-TAAAAAAAA-TAAA
- chr13-19467353-TAAAAAAAA-TAAAA
- chr13-19467353-TAAAAAAAA-TAAAAA
- chr13-19467353-TAAAAAAAA-TAAAAAA
- chr13-19467353-TAAAAAAAA-TAAAAAAA
- chr13-19467353-TAAAAAAAA-TAAAAAAAAA
- chr13-19467353-TAAAAAAAA-TAAAAAAAAAA
- chr13-19467353-TAAAAAAAA-TAAAAAAAAAAA
- chr13-19467353-TAAAAAAAA-TAAAAAAAAAAAA
- chr13-19467353-TAAAAAAAA-TAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_001395978.1(TPTE2):c.393-17_393-10delTTTTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 0)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
TPTE2
NM_001395978.1 intron
NM_001395978.1 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.79
Publications
0 publications found
Genes affected
TPTE2 (HGNC:17299): (transmembrane phosphoinositide 3-phosphatase and tensin homolog 2) TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TPTE2 | NM_001395978.1 | c.393-17_393-10delTTTTTTTT | intron_variant | Intron 9 of 22 | ENST00000697147.1 | NP_001382907.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 genomes
Cov.:
0
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1062184Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 518820
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
1062184
Hom.:
AF XY:
AC XY:
0
AN XY:
518820
African (AFR)
AF:
AC:
0
AN:
22708
American (AMR)
AF:
AC:
0
AN:
11016
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
15978
East Asian (EAS)
AF:
AC:
0
AN:
25646
South Asian (SAS)
AF:
AC:
0
AN:
40292
European-Finnish (FIN)
AF:
AC:
0
AN:
35596
Middle Eastern (MID)
AF:
AC:
0
AN:
3676
European-Non Finnish (NFE)
AF:
AC:
0
AN:
863900
Other (OTH)
AF:
AC:
0
AN:
43372
GnomAD4 genome Cov.: 0
GnomAD4 genome
Cov.:
0
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
You must be logged in to view publications. This limit was set because tens of millions (!) of queries from AI bots are generated daily.