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.

109 entries on 2 pages. Showing entries 1 - 100.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 22 c.8851G>A r.(=) c.Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs11571769 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Parent #1 - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Parent #1 - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
?/. 22 c.8851G>A r.(?) p.Ala2951Thr - Unknown - NA g.32953550G>A g.32379413G>A 9079G/A (A2951T) - BRCA2_000380 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8851G>A r.(?) p.Ala2951Thr - Unknown - NA g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 Co-segregation in families; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8851G>A r.(?) p.Ala2951Thr - Unknown - NA g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 co-occurrence with deleterious variant; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8851G>A r.(?) p.Ala2951Thr - Unknown - NA g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 Prevalence in normal controls; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 22 c.8851G>A r.(?) p.Ala2951Thr - Unknown - NA g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 22 c.8851G>A r.(?) p.Ala2951Thr - Unknown - NA g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 Multifactorial likelihood-ratio model; inconclusive PubMed: Hammet 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8851G>A r.(?) p.Ala2951Thr - Unknown - NA g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 Protein likelihood ratio model; predicted neutral PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 22 c.8851G>A r.(?) p.Ala2951Thr - Unknown - NA g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 - PubMed: Spitzer 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8851G>A r.(?) p.Ala2951Thr - Unknown - NA g.32953550G>A g.32379413G>A 9079G/A (A2951T) - BRCA2_000380 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - shared by Quest Diagnostics - rs11571769 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown kConFab likely benign g.32953550G>A g.32379413G>A BRCA2 9079 G>A (A2951T) - BRCA2_000380 - kConFab variant classification: LCS - - Germline - 19/1658 - - - DNA SEQ - - cancer, breast - - 19 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 19 kConFab - Heather Thorne
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Parent #1 - benign g.32953550G>A g.32379413G>A 9079G>A-Ala2951Thr (A2951T) - BRCA2_000380 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 3 families (BRCA1/2 screening) - - Greece - - - - - 3 Florentia Fostira
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown ENIGMA benign g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown ENIGMA benign g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown ENIGMA benign g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown ENIGMA benign g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown ENIGMA benign g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown ENIGMA benign g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown ENIGMA benign g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown ENIGMA benign g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown ENIGMA benign g.32953550G>A g.32379413G>A A2951T - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Parent #1 - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.036 (Admixed American/Latino), 0.0215 (South Asian), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0390 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0921 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1487 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0400 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0412 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0472 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0536 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0717 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0833 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1009 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1021 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1032 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1234 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1405 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1425 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR2043 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR2050 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR2102 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0365 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0570 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0759 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1082 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1218 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1328 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR2064 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0822 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1079 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1199 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1349 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0547 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0783 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0918 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1167 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1229 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1237 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR2057 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0558 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0864 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0961 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- - c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A BRCA2(NM_000059.3):c.8851G>A (p.A2951T, p.(Ala2951Thr), p.Ala2951Thr), BRCA2(NM_000059.4):c.8851G>A (p.A2951T) - BRCA2_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A BRCA2(NM_000059.3):c.8851G>A (p.A2951T, p.(Ala2951Thr), p.Ala2951Thr), BRCA2(NM_000059.4):c.8851G>A (p.A2951T) - BRCA2_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A BRCA2(NM_000059.3):c.8851G>A (p.A2951T, p.(Ala2951Thr), p.Ala2951Thr), BRCA2(NM_000059.4):c.8851G>A (p.A2951T) - BRCA2_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A BRCA2(NM_000059.3):c.8851G>A (p.A2951T, p.(Ala2951Thr), p.Ala2951Thr), BRCA2(NM_000059.4):c.8851G>A (p.A2951T) - BRCA2_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A BRCA2(NM_000059.3):c.8851G>A (p.A2951T, p.(Ala2951Thr), p.Ala2951Thr), BRCA2(NM_000059.4):c.8851G>A (p.A2951T) - BRCA2_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 48/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 48/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 48/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 48/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 48/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 48/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 48/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 48/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - 48/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - likely benign g.32953550G>A g.32379413G>A 9079G>A - BRCA2_000380 - PubMed: Jalkh 2012 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Jalkh 2012 cases F - Lebanon - - - - - 1 Johan den Dunnen
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - - - rs11571769 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A BRCA2(NM_000059.3):c.8851G>A (p.A2951T, p.(Ala2951Thr), p.Ala2951Thr), BRCA2(NM_000059.4):c.8851G>A (p.A2951T) - BRCA2_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8851G>A r.(?) p.(Ala2951Thr) - Parent #1 - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 72 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11571769 Germline - 72/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 72 Mohammed Faruq
-/. - c.8851G>A r.(?) p.(Ala2951Thr) - Both (homozygous) - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11571769 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-/. - c.8851G>A r.(?) p.(Ala2951Thr) - Parent #1 - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - PubMed: Dong 2021 - rs11571769 Germline - 4/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 3F/1M F;M - China - - - - - 4 Johan den Dunnen
-/. - c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A - BRCA2(NM_000059.3):c.8851G>A (p.A2951T, p.(Ala2951Thr), p.Ala2951Thr), BRCA2(NM_000059.4):c.8851G>A (p.A2951T) - BRCA2_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Nodo Argentina Varioma, unpublished - rs11571769 Germline - - - - - DNA SEQ - - BROVCA BR2960 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Nodo Argentina Varioma, unpublished - rs11571769 Germline - - - - - DNA SEQ - - BROVCA BR3031 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Nodo Argentina Varioma, unpublished - rs11571769 Germline - - - - - DNA SEQ - - BROVCA BR3045 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Nodo Argentina Varioma, unpublished - rs11571769 Germline - - - - - DNA SEQ - - BROVCA BR3053 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Nodo Argentina Varioma, unpublished - rs11571769 Germline - - - - - DNA SEQ - - BROVCA BR3062 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Nodo Argentina Varioma, unpublished - rs11571769 Germline - - - - - DNA SEQ - - BROVCA BR3108 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Nodo Argentina Varioma, unpublished - rs11571769 Germline - - - - - DNA SEQ - - BROVCA BR3185 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Nodo Argentina Varioma, unpublished - rs11571769 Germline - - - - - DNA SEQ - - BROVCA BR3261 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Nodo Argentina Varioma, unpublished - rs11571769 Germline - - - - - DNA SEQ - - BROVCA BR3279 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Nodo Argentina Varioma, unpublished - rs11571769 Germline - - - - - DNA SEQ - - BROVCA BR3323 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8851G>A r.(?) p.(Ala2951Thr) - Unknown - benign g.32953550G>A g.32379413G>A - - BRCA2_000380 - Nodo Argentina Varioma, unpublished - rs11571769 Germline - - - - - DNA SEQ - - BROVCA BR3326 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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