Variant #0000006840 (NC_000003.12:g.52403724G>A, BAP1(NM_004656.3):c.1421C>T)

Individual ID 00001164
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.52403724G>A
Reference -
DB-ID BAP1_000004
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Dolores Mansilla-Instituto Roffo
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
BAP1 NM_004656.3 ?/? 13 c.1421C>T p.(Pro474Leu) Hetero no r.(?) -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000001390 DNA CNV;SEQ-NG Invitae (deriv. Genesia) The following genes were evaluated for sequence changes and exonic deletions/duplications: ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A (p14ARF), CDKN2A (p16INK4a), CEBPA, CHEK2, CTNNA1, DICER1, DIS3L2, EPCAM*, FH, FLCN, GATA2, GPC3, GREM1*, HRAS, KIT, MAX, MEN1, MET, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PDGFRA, PHOX2B*, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN*, WT1. The following genes were evaluated for sequence changes only: EGFR*, HOXB13*, MITF*, NTHL1*, SDHA. 28-apr-2019 Multigenetic panel - 1 Dolores Mansilla-Instituto Roffo

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