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     

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Disease     

ID_report     

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?/? 11 c.4563A>G r.(?) p.(=) - Parent #1 - VUS g.32913055A>G g.32338918A>G 4563G>A - BRCA2_000123 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Erik Teugels
?/? 11 c.4563A>G r.(?) p.(=) - Parent #1 - VUS g.32913055A>G g.32338918A>G 4563G>A - BRCA2_000123 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
-/. - c.4563A>G r.(?) p.(Leu1521=) - Parent #1 - benign g.32913055A>G g.32338918A>G - - BRCA2_000123 - PubMed: Dong 2021 - rs206075 Germline - 693/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1907F/421M F;M - China - - - - - 693 Johan den Dunnen
-/. - c.4563A>G r.(?) p.(Leu1521=) - Both (homozygous) - benign g.32913055A>G g.32338918A>G - - BRCA2_000123 - PubMed: Dong 2021 - rs206075 Germline - 1635/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1907F/421M F;M - China - - - - - 1635 Johan den Dunnen
-/. - c.4563A>G r.(?) p.(Leu1521=) - Unknown - benign g.32913055A>G - BRCA2(NM_000059.3):c.4563A>G (p.L1521=), BRCA2(NM_000059.4):c.4563A>G (p.L1521=) - BRCA2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4563A>G r.(=) p.(=) - Unknown - benign g.32913055A>G - - - BRCA2_000123 - - - - Germline - - - - - DNA SEQ-NG-I - - LPRS4 - - - - - - - - - - - 1 R Hamid
-/. 11 c.4563A>G r.(?) p.(Leu1521=) - Unknown - benign g.32913055A>G g.32338918A>G - - BRCA2_000123 - PubMed: Oosthuizen 2021 - rs206075 Germline - 1.00 - - - DNA SEQ - - BROVCA SNP15 PubMed: Oosthuizen 2021 - - - South Africa - - - - - 1 Johan den Dunnen
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.4563G>A r.(?) p.(=) - Unknown - VUS g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
-/. 11 c.4563G>A - p.Leu1521Leu - Unknown - NA g.32913055G>A g.32338918G>A 4791G/A (L1521L) - BRCA2_000123 Prevalence in normal controls; predicted neutral Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4563G>A r.(?) p.(=) - Both (homozygous) - benign g.32913055G>A g.32338918G>A 4791G>A-Leu1521Leu (L1521L) - BRCA2_000123 >300 families homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ - - cancer, breast - - >300 families (BRCA1/2 screening) - - Greece - - - - - 300 Florentia Fostira
-/. 11 c.4563G>A r.(?) p.(Leu1521=) - Unknown - benign g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR0742 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4563G>A r.(?) p.(Leu1521=) - Unknown - benign g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - rs140729822 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1389 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4563G>A r.(?) p.(Leu1521=) - Unknown - benign g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0720 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4563G>A r.(?) p.(Leu1521=) - Unknown - benign g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR0436 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4563G>A r.(?) p.(Leu1521=) - Unknown - benign g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - rs140729822 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1244 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4563G>A r.(?) p.(Leu1521=) - Unknown - benign g.32913055G>A g.32338918G>A - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR0375 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4563G>A r.(?) p.(Leu1521=) - Unknown - benign g.32913055G>A - - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - rs140729822 Germline - 7/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4563G>A r.(?) p.(Leu1521=) - Unknown - benign g.32913055G>A - - - BRCA2_000123 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - rs140729822 Germline - 7/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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