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.

24 entries on 1 page. Showing entries 1 - 24.
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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     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A 8592G>Α-Trp2788X (W2788X) - BRCA2_002125 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 2 families (BRCA1/2 screening) - - Greece - - - - - 2 Florentia Fostira
+/+ 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic (dominant) g.32944571G>A g.32370434G>A - - BRCA2_002125 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8364G>A r.(?) p.(Trp2788Ter) - Unknown - pathogenic g.32944571G>A g.32370434G>A BRCA2(NM_000059.3):c.8364G>A (p.Trp2788*), BRCA2(NM_000059.4):c.8364G>A (p.W2788*) - BRCA2_002125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8364G>A r.(?) p.(Trp2788Ter) - Unknown - pathogenic g.32944571G>A g.32370434G>A BRCA2(NM_000059.3):c.8364G>A (p.Trp2788*), BRCA2(NM_000059.4):c.8364G>A (p.W2788*) - BRCA2_002125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ - c.8364G>A r.(?) p.(Trp2788*) - Unknown ACMG likely pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 co-occurrence with BRCA1 variant of uncertain significance c.682C>T (p.Thr231Met) - ClinVar-52566 rs397507981 Germline ? - - - - DNA SEQ-NG-I - - BROVCA 127757 - - F ? Germany - - - - - 1 Andreas Laner
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 17 families F - Austria white - - - - 17 Johan den Dunnen
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Denmark white - - - - 1 Johan den Dunnen
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - France white - - - - 7 Johan den Dunnen
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 15 families F - France unknown - - - - 15 Johan den Dunnen
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Spain white - - - - 1 Johan den Dunnen
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States white - - - - 2 Johan den Dunnen
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Unknown - pathogenic g.32944571G>A g.32370434G>A W2788X - BRCA2_002125 - Laitman, submitted - rs80359080 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Greece - - - - - 2 Eitan Friedman
+/. - c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic g.32944571G>A g.32370434G>A G8364A - BRCA2_002125 - PubMed: Bhaskaran 2019 - (refs 90) - rs397507981 Germline - 1/8085 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var436 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Unknown - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - PubMed: Schwartz 2019 - - Germline - - - - - DNA SEQ - - cancer - PubMed: Schwartz 2019 - - - - - - - - - 1 Mathias Schwartz
+/. - c.8364G>A r.(?) p.(Trp2788*) - Unknown - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.8364G>A r.(?) p.(Trp2788*) - Unknown - pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.8364G>A r.(?) p.(Trp2788*) - Parent #1 - pathogenic (dominant) g.32944571G>A g.32370434G>A - - BRCA2_002125 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 3 families with BRCA1/BRCA2 variant carriers F - France - - - - - 3 Johan den Dunnen
+/. - c.8364G>A r.(?) p.(Trp2788*) - Unknown ACMG pathogenic g.32944571G>A g.32370434G>A - - BRCA2_002125 ACMG grading: PM2,PP5,PVS1; variant reported in Lecarpentier 2012. Breast Cancer Res 14: 99; Rebbeck 2018. Hum Mutat 39: 593; Wang 2019. Mol Genet Genomic Med 7: 677 - - rs397507981 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. 19 c.8364G>A r.(?) p.(Trp2788*) - Unknown - pathogenic (dominant) g.32944571G>A g.32370434G>A - - BRCA2_002125 - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
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