Full data view for gene BRCA1

All records describing functional studies of specific variants. BRCA1 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_007294.3 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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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.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown kConFab pathogenic g.41245210G>A g.43093193G>A 2457 C>T (Q780X) - BRCA1_001125 - kConFab variant classification: P - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P09-4142 - 1 Arjen Mensenkamp
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P11-3202 - 1 Arjen Mensenkamp
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic (dominant) g.41245210G>A g.43093193G>A - - BRCA1_001125 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A c.2338C>T - BRCA1_001125 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Germline - - - - - DNA SEQ - - cancer, ovarian ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 11 c.2338C>T r.(?) p.(Gln780Ter) - Unknown - pathogenic g.41245210G>A g.43093193G>A BRCA1(NM_007294.3):c.2338C>T (p.Q780*), BRCA1(NM_007294.4):c.2338C>T (p.Q780*), BRCA1(NM_007300.4):c.2338C>T (p.Q780*) - BRCA1_001125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Canada white - - - - 3 Johan den Dunnen
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 9 families F - Germany white - - - - 9 Johan den Dunnen
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 21 families F - Germany unknown - - - - 21 Johan den Dunnen
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hong Kong African American - - - - 1 Johan den Dunnen
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Sweden white - - - - 3 Johan den Dunnen
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/+ 11 c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - United States white - - - - 6 Johan den Dunnen
+/+ - c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 - - 54540 rs80356945 Germline ? - - - - DNA SEQ-NG-IT blood OncomineBRCA BROVCA am1 - - F no India North Indian >55y - ca breast at 36y ca ovary at 51y being treated for advance ca ovaryb 1 Rajiv Gandhi CIRC
+/. - c.2338C>T r.(?) p.(Gln780Ter) - Unknown - pathogenic g.41245210G>A g.43093193G>A BRCA1(NM_007294.3):c.2338C>T (p.Q780*), BRCA1(NM_007294.4):c.2338C>T (p.Q780*), BRCA1(NM_007300.4):c.2338C>T (p.Q780*) - BRCA1_001125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.2338C>T r.(?) p.Gln780* - Unknown ACMG pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 ACMG grading: PM2,PVS1,PP5; receptor positive BC at age 48y, father BC at age 57y, and pancreas carzinoma at age 68y; cousin paternal side triple-negative BC at age 44y / co-occurrence with truncating variant in PALB2 (c.3114G>A:p.Trp1038*) and BRCA2 (c.8951C>A:p.Ser2984*). Confirmed by sanger sequencing; reported in Juwle 2012. Med Oncol 29: 3272 breast cancer early onset Maxwell 2016. Am J Hum Genet 98: 801 Walsh 2011. Proc Natl Acad Sci U S A 108: 18032 Fallopian tube / ovarian carcinoma - - rs80356945 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. - c.2338C>T r.(?) p.(Gln780Ter) - Unknown - pathogenic g.41245210G>A g.43093193G>A BRCA1(NM_007294.3):c.2338C>T (p.Q780*), BRCA1(NM_007294.4):c.2338C>T (p.Q780*), BRCA1(NM_007300.4):c.2338C>T (p.Q780*) - BRCA1_001125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2338C>T r.(?) p.(Gln780Ter) - Unknown - pathogenic g.41245210G>A g.43093193G>A BRCA1(NM_007294.3):c.2338C>T (p.Q780*), BRCA1(NM_007294.4):c.2338C>T (p.Q780*), BRCA1(NM_007300.4):c.2338C>T (p.Q780*) - BRCA1_001125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2338C>T r.(?) p.(Gln780Ter) - Unknown - pathogenic g.41245210G>A g.43093193G>A BRCA1(NM_007294.3):c.2338C>T (p.Q780*), BRCA1(NM_007294.4):c.2338C>T (p.Q780*), BRCA1(NM_007300.4):c.2338C>T (p.Q780*) - BRCA1_001125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2338C>T r.(?) p.(Gln780*) - Unknown - pathogenic (dominant) g.41245210G>A g.43093193G>A - - BRCA1_001125 - Journal: Gao 2020 as reported in: PubMed: Kwong 2012, Journal: Kwong 2012 - - Germline - 1 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Kwong 2012, Journal: Kwong 2012 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
+/. - c.2338C>T r.(?) p.(Gln780*) - Parent #1 - pathogenic g.41245210G>A g.43093193G>A - - BRCA1_001125 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80356945 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.2338C>T r.(?) p.(Gln780*) - Parent #1 - NA g.41245210G>A - chr17_41245210_G_A - BRCA1_001125 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
+/. 11 c.2338C>T r.(?) p.(Gln780Ter) - Unknown - pathogenic (dominant) g.41245210G>A g.43093193G>A 2338C>T - BRCA1_001125 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 184 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. - c.2338C>T r.(?) p.(Gln780Ter) - Unknown - pathogenic g.41245210G>A - BRCA1(NM_007294.3):c.2338C>T (p.Q780*), BRCA1(NM_007294.4):c.2338C>T (p.Q780*), BRCA1(NM_007300.4):c.2338C>T (p.Q780*) - BRCA1_001125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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