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.

56 entries on 1 page. Showing entries 1 - 56.
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AscendingDNA change (cDNA)     

RNA change     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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?/- 14 c.7397C>T r.(=) p.(Ala2466Val) - Unknown - VUS g.32929387C>T g.32355250C>T - - BRCA2_000186 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. Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs169547 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/. 14 c.7397C>T - p.Ala2466Val - Unknown - NA g.32929387C>T g.32355250C>T A2466V - BRCA2_000186 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) - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.7397C>T r.= p.Ala2466Val - Unknown - NA g.32929387C>T g.32355250C>T c.7397C>T - BRCA2_000186 splicing reporter minigene; no splicing defect 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: Théry 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 14 c.7397C>T - p.Ala2466Val - Unknown - NA g.32929387C>T g.32355250C>T A2466V - BRCA2_000186 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) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7397C>T r.(?) p.(Ala2466Val) - Parent #1 - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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 - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown kConFab benign g.32929387C>T g.32355250C>T BRCA2 7625 C>T (A2466V) - BRCA2_000186 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. kConFab variant classification: PM - - Germline - 682/1658 - - - DNA SEQ - - cancer, breast - - 682 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 682 kConFab - Heather Thorne
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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 - - BROVCA2 - - relative of Pat38a - - Argentina mestizos - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - BROVCA2 - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - BROVCA2 - - - - no Argentina European - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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 - - BROVCA1 - - - - - Argentina European - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - BROVCA2 - - - - no Argentina European - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina mestizos - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
-?/- 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - likely benign g.32929387C>T g.32355250C>T 7397T>C - BRCA2_000186 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-NG - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Both (homozygous) - benign g.32929387C>T g.32355250C>T 7625C>T-Ala2466Val (A2466V) - BRCA2_000186 >100 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 - - >200 families (BRCA1/2 screening) - - Greece - - - - - 200 Florentia Fostira
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown ENIGMA benign g.32929387C>T g.32355250C>T A2466V - BRCA2_000186 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. - - rs169547 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1123 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1389 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR0742 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1533 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR0436 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1244 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1542 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1532 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1534 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0720 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1498 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1503 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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. - - rs169547 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR0375 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T - - - BRCA2_000186 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. - - rs169547 Germline - 13/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T - - - BRCA2_000186 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. - - rs169547 Germline - 13/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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, SEQ-NG - gene panel cancer, breast - - - - - Argentina Spain - - - - 1 Maximiliano Zeballos
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387= g.32355250= - - BRCA2_000186 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina - - - - - 1 Maximiliano Zeballos
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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, SEQ-NG - gene panel cancer, breast - - - - - Argentina - - - - - 1 Maximiliano Zeballos
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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, SEQ-NG - gene panel cancer, ovarian - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387C>T g.32355250C>T - - BRCA2_000186 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, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
?/. - c.7397C>T r.(?) p.(Ala2466Val) - Parent #1 - VUS g.32929387C>T g.32355250C>T - - BRCA2_000186 classified as class 1, 2, 3, 4 or 5 in 345/25800 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 - 345 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 345 UK Variant Sharing Initiative
-/. - c.7397C>T r.(?) p.(Ala2466Val) - Parent #1 - benign g.32929387T= g.32355250T= c.7397T>C - BRCA2_000186 - PubMed: Dong 2021 - rs169547 Germline - 4/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 9330F/2052M - - China - - - - - 4 Johan den Dunnen
-/. 14 c.7397C>T r.(?) p.(Ala2466Val) - Unknown - benign g.32929387= g.32355250= 7397T>C - BRCA2_000186 - PubMed: Oosthuizen 2021 - rs169547 Germline - 0.022 - - - DNA SEQ - - BROVCA SNP23 PubMed: Oosthuizen 2021 - - - South Africa - - - - - 1 Johan den Dunnen
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