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.

42 entries on 1 page. Showing entries 1 - 42.
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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     

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VIP     

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Owner     
+/+ 11 c.6486_6489del r.(?) p.(Lys2162fs) - Unknown - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.6486_6489del r.(?) p.(Lys2162fs) - Unknown - pathogenic g.32914978_32914981del g.32340841_32340844del 6486_6489del4 - BRCA2_000162 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.6486_6489del r.(?) p.(Lys2162fs) - Unknown - pathogenic g.32914978_32914981del g.32340841_32340844del 6486_6489del4 - BRCA2_000162 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.6486_6489del r.(?) p.(Lys2162fs) - Unknown - pathogenic g.32914978_32914981del g.32340841_32340844del 6486_6489del4 - BRCA2_000162 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.6486_6489del r.(?) p.(Lys2162fs*5) - Unknown - pathogenic g.32914978_32914981del g.32340841_32340844del 6486_6489delACAA - BRCA2_000162 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.6486_6489del r.(?) p.(Lys2162fs) - Unknown - pathogenic g.32914978_32914981del g.32340841_32340844del 6486_6489del4 - BRCA2_000162 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/. 11 c.6486_6489del r.(?) p.Lys2162Asnfs*5 - Unknown - NA g.32914978_32914981del g.32340841_32340844del 6710del4 - BRCA2_000162 - PubMed: Edwards 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.6486_6489del r.(?) p.Lys2162Asnfs*5 - Unknown - NA g.32914978_32914981del g.32340841_32340844del 6710del4 - BRCA2_000162 Loss of Heterozygosity; as variant control PubMed: Gayther 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Unknown kConFab pathogenic g.32914978_32914981del g.32340841_32340844del BRCA2 6714_6717 del ACAA (STOP 2166) - BRCA2_000162 - kConFab variant classification: P - - Germline - 3/1658 - - - DNA SEQ - - cancer, breast - - 3 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 3 kConFab - Heather Thorne
+/+ 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic (dominant) g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Unknown - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Austria white - - - - 2 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Canada white - - - - 3 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 25 families F - Denmark white - - - - 25 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - 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.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - 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.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany white - - - - 1 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Germany unknown - - - - 5 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Italy white - - - - 2 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Malaysia Asian - - - - 1 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Spain white - - - - 3 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Sweden unknown - - - - 3 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United Kingdom (Great Britain) white - - - - 3 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - 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
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - United States white - - - - 6 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Unknown - pathogenic g.32914978_32914981del g.32340841_32340844del 6714_6717delACAA - BRCA2_000162 - PubMed: Al-Mulla 2009 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Al-Mulla 2009 cases F - Kuwait - - - - - 2 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Unknown - pathogenic g.32914978_32914981del g.32340841_32340844del 6714del4 - BRCA2_000162 - Laitman, submitted - rs80359598 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Italy - - - - - 1 Eitan Friedman
+/. - c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del 6482_6485del - BRCA2_000162 - PubMed: Bhaskaran 2019 - (refs 79, 90) - - Germline - 7/8085 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var327 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 7 Johan den Dunnen
+/. - c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del 6486_6489delACAA - BRCA2_000162 - PubMed: Bhaskaran 2019 - (refs 87, 89) - rs80359598 Germline - 3/3907 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var328 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 3 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Unknown - pathogenic g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - - - rs80359598 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. - c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic (dominant) g.32914978_32914981del g.32340841_32340844del 6486_6489delACAA - BRCA2_000162 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Unknown - pathogenic (dominant) g.32914978_32914981del g.32340841_32340844del 6485_6488delAACA - BRCA2_000162 - Journal: Gao 2020 as reported in: PubMed: Shi 2017, Journal: Shi 2017, PubMed: Lang 2017, Journal: Lang 2017 - - Germline - 3 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Shi 2017, Journal: Shi 2017, PubMed: Lang 2017, Journal: Lang 2017 breast/ovarian cancer families/patients - - China - - - - - 3 Xianqi Gao
?/. - c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - VUS g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 classified as class 3, 4 or 5 in 6/12850 targeted tests and 6/25800 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 - 12 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 12 UK Variant Sharing Initiative
+/. 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - pathogenic (dominant) g.32914978_32914981del g.32340841_32340844del - - BRCA2_000162 - PubMed: Santonocito 2020 - rs80359598 Germline - 2/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 2 Johan den Dunnen
?/. - c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - NA g.32914978_32914981del - chr13_32914973_GACAA_G - BRCA2_000162 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.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Parent #1 - NA g.32914978_32914981del - chr13_32914973_GACAA_G - BRCA2_000162 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 - 3/53461 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 - 3 BRIDGES consortium
+/. 11 c.6486_6489del r.(?) p.(Lys2162AsnfsTer5) - Unknown IARC pathogenic g.32914978_32914981del g.32340841_32340844del 6486_6489delACAA - BRCA2_000162 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Belgium Bulgaria - - - - 1 Katrien Storm
+/. - c.6486_6489del r.(?) p.(Lys2162AsnfsTer5) - Parent #1 - pathogenic g.32914978_32914981del g.32340841_32340844del c.6482_6485delACAA - BRCA2_000162 - PubMed: Dong 2021 - rs80359598 Germline - 1/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1F F - China - - - - - 1 Johan den Dunnen
+/. - c.6486_6489del r.(?) p.(Lys2162Asnfs*5) - Unknown - pathogenic g.32914978_32914981del g.32340841_32340844del 6714del4 - BRCA2_000162 - PubMed: Noh 2012 - - Germline - - - - - DNA SEQ - - cancer, breast Pat2 PubMed: Noh 2012 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.6486_6489del r.(?) p.(Lys2162AsnfsTer5) - Unknown - pathogenic g.32914978_32914981del - BRCA2(NM_000059.3):c.6486_6489del (p.(Lys2162AsnfsTer5)), BRCA2(NM_000059.4):c.6486_6489delACAA (p.K2162Nfs*5) - BRCA2_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6486_6489del r.(?) p.(Lys2162AsnfsTer5) - Unknown - pathogenic g.32914978_32914981del - BRCA2(NM_000059.3):c.6486_6489del (p.(Lys2162AsnfsTer5)), BRCA2(NM_000059.4):c.6486_6489delACAA (p.K2162Nfs*5) - BRCA2_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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