Variant #0000011378 (NC_000013.11:g.32344632del, BRCA2(NM_000059.4):c.6916del)

Individual ID 00004261
Chromosome 13
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32344632del
Reference -
DB-ID BRCA2_000319
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Guillermo Alberto-Instituto Fleming
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)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
BRCA2 NM_000059.4 +?/+? 12 c.6916del r.? p.(Ala2306LeufsTer10) Hetero no -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000004599 DNA SEQ-NG GENOS ALK, APC, ATM, AXIN2, ACVRL1, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN2A, CHEK2, CFTR, EPCAM, EXT1, EXT2, ENG, EPAS1, FANCG, FH, FLCN, FANCC, GALNT12, GREM1, KIT, MAX, MEN1, MET, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, MC1R, MDH2, MITF, MSR1, NBN, NF1, NF2, NTHL1, NTRK1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RHBDF2, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SPINK1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPC 23-Apr-2025 Multigenetic panel - 1 Guillermo Alberto-Instituto Fleming

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