PPT2-EGFL8

PPT2-EGFL8 readthrough (NMD candidate)

Basic information

Region (hg38): 6:32153845-32171978

Links

ENSG00000258388NCBI:100532746HGNC:48343GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PPT2-EGFL8 gene.

  • Inborn genetic diseases (26 variants)
  • not specified (1 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPT2-EGFL8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
3
clinvar
1
clinvar
4
splice region
0
non coding
23
clinvar
1
clinvar
24
Total 0 0 26 2 0

Variants in PPT2-EGFL8

This is a list of pathogenic ClinVar variants found in the PPT2-EGFL8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
6-32154634-G-A not specified Likely benign (Oct 13, 2023)3217974
6-32154686-C-T not specified Uncertain significance (Mar 19, 2024)3309605
6-32154743-A-G not specified Uncertain significance (May 17, 2023)2548053
6-32154758-T-A not specified Uncertain significance (Jan 03, 2024)3217972
6-32155030-A-T not specified Uncertain significance (Mar 24, 2023)2529284
6-32155045-G-C not specified Uncertain significance (Jun 03, 2022)2412205
6-32155141-G-A not specified Uncertain significance (Sep 26, 2024)2350320
6-32155151-C-T not specified Uncertain significance (Oct 12, 2022)2318184
6-32155180-C-G not specified Uncertain significance (Jan 30, 2024)3217973
6-32155693-C-A not specified Uncertain significance (Jun 02, 2023)2556098
6-32155909-C-T not specified Uncertain significance (Jul 14, 2021)2237017
6-32157648-G-A not specified Uncertain significance (Mar 15, 2024)3309604
6-32157860-C-T not specified Uncertain significance (Jun 09, 2022)2299151
6-32157917-C-G not specified Uncertain significance (Feb 17, 2022)2277738
6-32162807-G-A not specified Uncertain significance (Jul 25, 2024)218666
6-32162817-G-C not specified Uncertain significance (Jun 12, 2023)2559502
6-32162873-A-G not specified Uncertain significance (May 16, 2023)2546628
6-32162909-C-G not specified Uncertain significance (Mar 28, 2024)3309608
6-32162931-T-C not specified Uncertain significance (Dec 15, 2023)3217975
6-32166235-G-A not specified Uncertain significance (Oct 21, 2024)3507123
6-32166503-G-T not specified Uncertain significance (Jan 06, 2023)2461652
6-32166518-A-G not specified Uncertain significance (Jun 16, 2024)3274731
6-32166600-G-T not specified Uncertain significance (Jul 02, 2024)2342980
6-32166618-C-G Likely benign (May 01, 2024)2656448
6-32166712-G-A not specified Uncertain significance (Jun 04, 2024)3274730

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis
0.420

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium