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.

25 entries on 1 page. Showing entries 1 - 25.
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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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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

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Disease     

ID_report     

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-/- 11 c.2315T>C r.(=) p.(Val772Ala) - Unknown - benign g.41245233A>G g.43093216A>G - - BRCA1_000195 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs80357467 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 11 c.2315T>C r.(?) p.(Val772Ala) - Parent #1 - benign g.41245233A>G g.43093216A>G - - BRCA1_000195 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
?/. 11 c.2315T>C r.(?) p.Val772Ala - Unknown - NA g.41245233A>G g.43093216A>G V772A - BRCA1_000195 - PubMed: Burk-Herrick 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2315T>C r.(?) p.Val772Ala - Unknown - NA g.41245233A>G g.43093216A>G V772A - BRCA1_000195 evolutionary conservation analysis; inconclusive PubMed: Judkins 2005a - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2315T>C r.(?) p.Val772Ala - Unknown - NA g.41245233A>G g.43093216A>G V772A - BRCA1_000195 co-occurrence with deleterious variant; predicted neutral PubMed: Judkins 2005a - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2315T>C r.(?) p.Val772Ala - Unknown - NA g.41245233A>G g.43093216A>G V772A - BRCA1_000195 co-occurrence with deleterious variant; predicted neutral PubMed: Judkins 2005b - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2315T>C r.(?) p.Val772Ala - Unknown - NA g.41245233A>G g.43093216A>G V772A - BRCA1_000195 evolutionary conservation analysis; predicted deleterious PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2315T>C r.(?) p.Val772Ala - Unknown - NA g.41245233A>G g.43093216A>G V772A - BRCA1_000195 Grantham score; predicted neutral PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2315T>C r.(?) p.Val772Ala - Unknown - NA g.41245233A>G g.43093216A>G V772A - BRCA1_000195 Histopathology; predicted neutral PubMed: Spearman 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2315T>C r.(?) p.Val772Ala - Unknown - NA g.41245233A>G g.43093216A>G V772A - BRCA1_000195 Multifactorial likelihood-ratio model; inconclusive PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2315T>C r.(?) p.(Val772Ala) - Unknown - benign g.41245233A>G g.43093216A>G - - BRCA1_000195 - shared by Quest Diagnostics - rs80357467 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/? 11 c.2315T>C r.(?) p.(Val772Ala) - Unknown kConFab VUS g.41245233A>G g.43093216A>G 2434 T>C (V772A) - BRCA1_000195 - kConFab variant classification: UV - - Germline - 3/1658 - - - DNA SEQ - - cancer, breast - - 3 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 3 kConFab - Heather Thorne
-/- 11 c.2315T>C r.(?) p.(Val772Ala) - Parent #1 - benign g.41245233A>G g.43093216A>G - - BRCA1_000195 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.000000192 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2315T>C r.(?) p.(Val772Ala) - Unknown - benign g.41245233A>G g.43093216A>G - - BRCA1_000195 - - - rs80357467 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2053 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 11 c.2315T>C r.(?) p.(Val772Ala) - Unknown - VUS g.41245233A>G g.43093216A>G - - BRCA1_000195 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.2315T>C r.(?) p.(Val772Ala) - Unknown - VUS g.41245233A>G g.43093216A>G - - BRCA1_000195 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-/. 11 c.2315T>C r.(?) p.(Val772Ala) - Unknown - benign g.41245233A>G g.43093216A>G BRCA1(NM_007294.3):c.2315T>C (p.V772A, p.Val772Ala), BRCA1(NM_007294.4):c.2315T>C (p.V772A) - BRCA1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 11 c.2315T>C r.(?) p.(Val772Ala) - Unknown - likely benign g.41245233A>G g.43093216A>G BRCA1(NM_007294.3):c.2315T>C (p.V772A, p.Val772Ala), BRCA1(NM_007294.4):c.2315T>C (p.V772A) - BRCA1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2315T>C r.(?) p.(Val772Ala) - Unknown - benign g.41245233A>G g.43093216A>G BRCA1(NM_007294.3):c.2315T>C (p.V772A, p.Val772Ala), BRCA1(NM_007294.4):c.2315T>C (p.V772A) - BRCA1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2315T>C r.(?) p.(Val772Ala) - Unknown - benign g.41245233A>G g.43093216A>G BRCA1(NM_007294.3):c.2315T>C (p.V772A, p.Val772Ala), BRCA1(NM_007294.4):c.2315T>C (p.V772A) - BRCA1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2315T>C r.(?) p.(Val772Ala) - Unknown - benign g.41245233A>G g.43093216A>G BRCA1(NM_007294.3):c.2315T>C (p.V772A, p.Val772Ala), BRCA1(NM_007294.4):c.2315T>C (p.V772A) - BRCA1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2315T>C r.(?) p.(Val772Ala) - Parent #1 - NA g.41245233A>G - chr17_41245233_A_G - BRCA1_000195 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 - 20/60466 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 - 20 BRIDGES consortium
?/. - c.2315T>C r.(?) p.(Val772Ala) - Parent #1 - VUS g.41245233A>G g.43093216A>G - - BRCA1_000195 classified as class 1, 2, 3, 4 or 5 in 1/12850 targeted tests and 7/25800 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 - 8 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 8 UK Variant Sharing Initiative
?/. - c.2315T>C r.(?) p.(Val772Ala) - Parent #1 - NA g.41245233A>G - chr17_41245233_A_G - BRCA1_000195 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 - 17/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 17 BRIDGES consortium
-/. - c.2315T>C r.(?) p.(Val772Ala) - Unknown - benign g.41245233A>G - BRCA1(NM_007294.3):c.2315T>C (p.V772A, p.Val772Ala), BRCA1(NM_007294.4):c.2315T>C (p.V772A) - BRCA1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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