Full data view for gene BRCA2

All records describing functional studies of specific variants.
BRCA2 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000059.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Country     

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Age at death     

VIP     

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Owner     
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 11 c.5351dup r.(?) p.(Asn1784fs) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
+/+ 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.5351dup r.(?) p.Asn1784fs - Unknown - NA g.32913843dup g.32339706dup 5579insA - BRCA2_000135 - PubMed: Peelen 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 BIC - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Unknown - - - - - DNA SEQ-NG - - cancer, breast - - - - - - - - - - - 1 Katrien Storm
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Germline - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - - - - 1 Kathleen Claes
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown ENIGMA pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - rs80359508 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/+ 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic (dominant) g.32913843dup g.32339706dup - - BRCA2_000135 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - - - rs80359508 Germline - 9/1900 cases - - - DNA SEQ - - cancer, breast BR0836 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - - - rs80359508 Germline - 9/1900 cases - - - DNA SEQ - - cancer, breast BR1081 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - - - rs80359508 Germline - 9/1900 cases - - - DNA SEQ - - cancer, breast BR0596 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - - - rs80359508 Germline - 9/1900 cases - - - DNA SEQ - - cancer, breast BR1120 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - - - rs80359508 Germline - 9/1900 cases - - - DNA SEQ - - cancer, breast BR1129 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - - - rs80359508 Germline - 9/1900 cases - - - DNA SEQ - - cancer, breast BR0379 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - - - rs80359508 Germline - 9/1900 cases - - - DNA SEQ - - cancer, breast BR1178 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. - c.5351dup r.(?) p.(Asn1784LysfsTer3) - Unknown - pathogenic g.32913843dup g.32339706dup BRCA2(NM_000059.3):c.5351dupA (p.N1784Kfs*3), BRCA2(NM_000059.4):c.5351dupA (p.N1784Kfs*3) - BRCA2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France white - - - - 1 Johan den Dunnen
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France unknown - - - - 1 Johan den Dunnen
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany unknown - - - - 1 Johan den Dunnen
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Italy white - - - - 1 Johan den Dunnen
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Korea Asian - - - - 1 Johan den Dunnen
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States African American - - - - 1 Johan den Dunnen
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States white - - - - 3 Johan den Dunnen
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup - - BRCA2_000135 - - - rs80359508 Germline - 10/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - PubMed: Jakimovska 2018, Journal: Laitman 2019 - rs80359508 Germline - 1/313 cases - - - DNA SEQ - - BROVCA - PubMed: Jakimovska 2018, Journal: Laitman 2019 cases F - Macedonia - - - - - 1 Eitan Friedman
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - PubMed: Stegel 2011, Journal: Laitman 2019 - rs80359508 Germline - - - - - DNA SEQ - - BROVCA - PubMed: Stegel 2011, Journal: Laitman 2019 families F - Slovenia - - - - - 1 Eitan Friedman
+/. - c.5351dup r.(?) p.(Asn1784Lysfs*3) - Parent #1 - pathogenic g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - PubMed: Bhaskaran 2019 - (refs 87) - rs80359508 Germline - 1/2991 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var246 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. - c.5351dup r.(?) p.(Asn1784LysfsTer3) - Unknown - pathogenic g.32913843dup g.32339706dup BRCA2(NM_000059.3):c.5351dupA (p.N1784Kfs*3), BRCA2(NM_000059.4):c.5351dupA (p.N1784Kfs*3) - BRCA2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) - Unknown - pathogenic (dominant) g.32913843dup g.32339706dup 5349_5350insA - BRCA2_000135 - Journal: Gao 2020 as reported in: PubMed: Lang 2017, Journal: Lang 2017 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Lang 2017, Journal: Lang 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
+/. 11 c.5351dup r.(?) p.(Asn1784LysfsTer3) - Parent #1 - pathogenic (dominant) g.32913843dup g.32339706dup - - BRCA2_000135 - PubMed: Santonocito 2020 - rs80359507 Germline - 4/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 4 Johan den Dunnen
+/. - c.5351dup r.(?) p.(Asn1784LysfsTer3) - Unknown - pathogenic g.32913843dup - BRCA2(NM_000059.3):c.5351dupA (p.N1784Kfs*3), BRCA2(NM_000059.4):c.5351dupA (p.N1784Kfs*3) - BRCA2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5351dup r.(?) p.(Asn1784LysfsTer3) - Unknown - pathogenic (dominant) g.32913843dup g.32339706dup 5351dupA - BRCA2_000135 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 277 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.5351dup r.(?) p.(Asn1784LysfsTer3) - Unknown - pathogenic (dominant) g.32913843dup g.32339706dup - - BRCA2_000135 - Nodo Argentina Varioma, unpublished - rs80359508 Germline - - - - - DNA SEQ - - BROVCA BR3012 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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