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.

35 entries on 1 page. Showing entries 1 - 35.
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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)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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?/- 18 c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - VUS g.32937526G>T g.32363389G>T - - BRCA2_000297 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/- 18 c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - VUS g.32937526G>T g.32363389G>T - - BRCA2_000297 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/- 18 c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - VUS g.32937526G>T g.32363389G>T - - BRCA2_000297 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/- 18 c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - VUS g.32937526G>T g.32363389G>T - - BRCA2_000297 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/- 18 c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - VUS g.32937526G>T g.32363389G>T - - BRCA2_000297 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/- 18 c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - VUS g.32937526G>T g.32363389G>T - - BRCA2_000297 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/- 18 c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - VUS g.32937526G>T g.32363389G>T - - BRCA2_000297 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/- 18 c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - VUS g.32937526G>T g.32363389G>T - - BRCA2_000297 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/- 18 c.8187G>T r.(?) p.(K2729N) FA FANCD1_00025 Parent #1 - pathogenic g.32937526G>T g.32363389G>T - - BRCA2_000297 4/23/08: classified as a variant of unknown significance by BIC, 22 entries PubMed: Howlett 2002 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
-/. 18 c.8187G>T r.(?) p.Lys2729Asn - Unknown - NA g.32937526G>T g.32363389G>T K2729N - BRCA2_000297 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.8187G>T r.(?) p.Lys2729Asn - Unknown - NA g.32937526G>T g.32363389G>T K2729N - BRCA2_000297 Multifactorial likelihood-ratio model; predicted neutral PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.8187G>T r.(?) p.Lys2729Asn - Unknown - NA g.32937526G>T g.32363389G>T K2729N - BRCA2_000297 Homology-directed repair assay; as wildtype control PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.8187G>T r.(?) p.Lys2729Asn - Unknown - NA g.32937526G>T g.32363389G>T K2729N - BRCA2_000297 Centrosome amplification; as wildtype control PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.8187G>T r.(?) p.Lys2729Asn - Unknown - NA g.32937526G>T g.32363389G>T K2729N - BRCA2_000297 Protein likelihood ratio model; inconclusive PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 18 c.8187G>T r.(?) p.Lys2729Asn - Unknown - NA g.32937526G>T g.32363389G>T K2729N - BRCA2_000297 Embryonis stem cell assay DSS1 interaction not affected; as wildtype control PubMed: Biswas 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 18 c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 - shared by Quest Diagnostics - rs80359065 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 18 c.8187G>T r.(?) p.(Lys2729Asn) - Parent #1 - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.0000165. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.01224 (Asian), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Guidigli 2013 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/- 18 c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - VUS g.32937526G>T g.32363389G>T - - BRCA2_000297 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-/- - c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - benign g.32937526G>T g.32363389G>T BRCA2(NM_000059.3):c.8187G>T (p.K2729N), BRCA2(NM_000059.4):c.8187G>T (p.K2729N) - BRCA2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.8187G>T r.spl p.(Lys2729Asn) - Parent #1 - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359065 Germline - 235/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 235 Yukihide Momozawa
-/. 18 c.8187G>T r.spl p.(Lys2729Asn) - Parent #1 - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359065 Germline - 316/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 316 Yukihide Momozawa
-/. - c.8187G>T r.(?) p.(Lys2729Asn) - Both (homozygous) - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359065 Germline - 2/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 2 Yukihide Momozawa
-/. - c.8187G>T r.(?) p.(Lys2729Asn) - Both (homozygous) - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359065 Germline - 4/11241 controls - - - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 4 Yukihide Momozawa
-/. - c.8187G>T r.(?) p.(Lys2729Asn) - Parent #1 - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359065 Germline - 3/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 3 Yukihide Momozawa
-/. - c.8187G>T r.(?) p.(Lys2729Asn) - Both (homozygous) - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359065 Germline - 3/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 3 Yukihide Momozawa
-/. - c.8187G>T r.(?) p.(Lys2729Asn) - Parent #1 - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359065 Germline - 362/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 362 Yukihide Momozawa
-/. - c.8187G>T r.(?) p.(Lys2729Asn) - Parent #1 - benign g.32937526G>T g.32363389G>T 8187G>T, 8415G>T, K2729N - BRCA2_000297 - PubMed: Bhaskaran 2019 - (refs 8, 15, 35, 41, 56, 69, 95) - rs80359065 Germline - 15/2354 cases - - - DNA SEQ-NG, SSCA - - cancer, breast BRCA1-var427 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 15 Johan den Dunnen
-/. - c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - benign g.32937526G>T g.32363389G>T BRCA2(NM_000059.3):c.8187G>T (p.K2729N), BRCA2(NM_000059.4):c.8187G>T (p.K2729N) - BRCA2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 - Journal: Gao 2020 as reported in: PubMed: Zhi 2002, Journal: Zhi 2002, PubMed: Suter 2004, Journal: Suter 2004, PubMed: Kwong 2016, Journal: Kwong 2016, PubMed: Wu 2017, Journal: Wu 2017 - - Germline - 12 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Zhi 2002, Journal: Zhi 2002, PubMed: Suter 2004, Journal: Suter 2004, PubMed: Kwong 2016, Journal: Kwong 2016, PubMed: Wu 2017, Journal: Wu 2017 breast/ovarian cancer families/patients - - China - - - - - 12 Xianqi Gao
?/. - c.8187G>T r.(?) p.(Lys2729Asn) - Parent #1 - VUS g.32937526G>T g.32363389G>T - - BRCA2_000297 classified as class 1, 2, 3, 4 or 5 in 2/25800 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 - 2 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 2 UK Variant Sharing Initiative
-/. - c.8187G>T r.(?) p.(Lys2729Asn) - Maternal (confirmed) - benign g.32937526G>T - 8415G>T (K2729N) - BRCA2_000297 - PubMed: Marino 2009 - - Germline - - - - - DNA, RNA MLPA, RT-PCR, SEQ - - cancer, breast family PubMed: Marino 2009 4-generation family, 7 affected (7F) F no Italy - - - - - 7 Johan den Dunnen
-/. - c.8187G>T r.(?) p.(Lys2729Asn) - Parent #1 - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 - PubMed: Dong 2021 - rs80359065 Germline - 303/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 249F/59M F;M - China - - - - - 303 Johan den Dunnen
-/. - c.8187G>T r.(?) p.(Lys2729Asn) - Both (homozygous) - benign g.32937526G>T g.32363389G>T - - BRCA2_000297 - PubMed: Dong 2021 - rs80359065 Germline - 5/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 249F/59M F;M - China - - - - - 5 Johan den Dunnen
-/. - c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - benign g.32937526G>T - BRCA2(NM_000059.3):c.8187G>T (p.K2729N), BRCA2(NM_000059.4):c.8187G>T (p.K2729N) - BRCA2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8187G>T r.(?) p.(Lys2729Asn) - Unknown - likely benign g.32937526G>T - BRCA2(NM_000059.3):c.8187G>T (p.K2729N), BRCA2(NM_000059.4):c.8187G>T (p.K2729N) - BRCA2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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