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.

30 entries on 1 page. Showing entries 1 - 30.
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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     
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del 1389_1390delAG - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del 1389_1390delAG - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del 1389_1390delAG - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del 1389_1390delAG - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del 1389_1390delAG - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del 1389_1390delAG - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del 1389_1390delAG - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del 1389_1390delAG - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del 1389_1390delAG - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del 1389_1390delAG - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 10 c.1389_1390del r.(?) p.(Val464fs) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del 1617delAG - BRCA2_001848 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic g.32907004_32907005del g.32332867_32332868del 1617delAG (463 Stop 466) - BRCA2_001848 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
+/+ 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Unknown kConFab pathogenic g.32907004_32907005del g.32332867_32332868del BRCA2 1617_1618 del AG (STOP 466) - BRCA2_001848 - kConFab variant classification: P - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
+/+ 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic (dominant) g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1389_1390del r.(?) p.(Val464GlyfsTer3) - Unknown - pathogenic g.32907004_32907005del g.32332867_32332868del BRCA2(NM_000059.4):c.1389_1390delAG (p.V464Gfs*3) - BRCA2_001848 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Austria white - - - - 1 Johan den Dunnen
+/. 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Czech Republic white - - - - 1 Johan den Dunnen
+/. 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 - 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
+/. 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France white - - - - 2 Johan den Dunnen
+/. 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 - 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
+/. 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - United Kingdom (Great Britain) white - - - - 6 Johan den Dunnen
+/. 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Hispanic - - - - 1 Johan den Dunnen
+/. 10 c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 - 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
+/. - c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359283 Germline - 1/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 1 Yukihide Momozawa
+/. - c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - pathogenic (dominant) g.32907004_32907005del g.32332867_32332868del 1389_1390delAG - BRCA2_001848 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
?/. - c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - VUS g.32907004_32907005del g.32332867_32332868del - - BRCA2_001848 classified as class 3, 4 or 5 in 8/12850 targeted tests and 7/25800 full screen tests: PHE release 2 BRCA germline variants (June 19, 2019). Entry from British diagnostic laboratories uploaded via Public Health England. Where benign/likely benign variants were excluded. Currently variants are classified as either "3, 4 or 5" or "1, 2, 3, 4 or 5". UK Variant Sharing Initiative - - CLASSIFICATION record - 15 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 15 UK Variant Sharing Initiative
?/. - c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - NA g.32907004_32907005del - chr13_32907003_CAG_C - BRCA2_001848 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
?/. - c.1389_1390del r.(?) p.(Val464Glyfs*3) - Parent #1 - NA g.32907004_32907005del - chr13_32907003_CAG_C - BRCA2_001848 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
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