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.

17 entries on 1 page. Showing entries 1 - 17.
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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     
-/. 11 c.6513C>G - p.Val2171Val - Unknown - NA g.32915005C>G g.32340868C>G 6741C/G (V2171V) - BRCA2_000163 Allele frequency analysis in 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: Freedman 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.6513C>G - p.Val2171Val - Unknown - NA g.32915005C>G g.32340868C>G 6741C/G (V2171V) - BRCA2_000163 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.6513C>G r.(?) p.(Val2171=) - Unknown ENIGMA benign g.32915005C>G g.32340868C>G V2171V - BRCA2_000163 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 - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown ENIGMA benign g.32915005C>G g.32340868C>G V2171V - BRCA2_000163 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 - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G g.32340868C>G - - BRCA2_000163 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 - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0742 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G g.32340868C>G - - BRCA2_000163 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 - 12/1900 cases - - - DNA SEQ - - cancer, breast BR1389 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G g.32340868C>G - - BRCA2_000163 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 - 12/1900 cases - - - DNA SEQ - - cancer, breast BR1544 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G g.32340868C>G - - BRCA2_000163 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 - 12/1900 cases - - - DNA SEQ - - cancer, breast BR1532 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G g.32340868C>G - - BRCA2_000163 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.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G g.32340868C>G - - BRCA2_000163 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 - 12/1900 cases - - - DNA SEQ - - cancer, breast BR1533 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G g.32340868C>G - - BRCA2_000163 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 - 12/1900 cases - - - DNA SEQ - - cancer, breast BR1541 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G g.32340868C>G - - BRCA2_000163 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 - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0436 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G g.32340868C>G - - BRCA2_000163 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 - 12/1900 cases - - - DNA SEQ - - cancer, breast BR1534 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G g.32340868C>G - - BRCA2_000163 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 - 12/1900 cases - - - DNA SEQ - - cancer, breast BR1244 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G g.32340868C>G - - BRCA2_000163 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 - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0375 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G - - - BRCA2_000163 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. - - rs206076 Germline - 14/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6513C>G r.(?) p.(Val2171=) - Unknown - benign g.32915005C>G - - - BRCA2_000163 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. - - rs206076 Germline - 14/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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