Variant #0000454401 (NC_000010.10:g.(?_88490000_89750000_?)del, PTEN(NM_000314.4):c.0)

Individual ID 00218462
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_88490000_89750000_?)del
DNA change (hg38) -
Published as del entire BMPR1a and PTEN genes
ISCN -
DB-ID BMPR1A_000105 See all 5 reported entries
Variant remarks ACMG PVS1
Reference PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Karl Heinimann
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PTEN NM_000314.4 ?/+ _1_9_ c.0 r.0 p.0
BMPR1A NM_004329.2 ?/+ _1_13_ c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219532 DNA MLPA - screening BMPR1A 1 Karl Heinimann