Variant #0000009390 (NC_000013.11:g.32339706dup, BRCA2(NM_000059.3):c.5351dup)

Individual ID 00002108
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32339706dup
Reference -
DB-ID BRCA2_000162 See all 19 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

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Review status     
BRCA2 NM_000059.3 +/+ 11 c.5351dup r.(5351dup) p.(Asn1784Lysfs*3) Hetero N/A -



Screenings


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Variants found     

Owner     
0000002395 DNA SEQ-NG Invitae Invitae Breast Cancer panel (26 genes) ABRAXAS1, AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, FANCM, MRE11, MUTYH, NF1, PALB2, PIK3CA, PTEN, RAD51C, RAD51D, RECQL, SDHB, SDHD, STK1, TP53, XRCC2 03-aug-2022 Multigenetic panel - 1 Lina Nuñez-Private Practice