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LOVD - Variant listings for BRCA2

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Path. Hide Path. column Descending
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Exon Hide Exon column Descending
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DNA change   Descending
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BIC DNA change Hide BIC DNA change column Descending
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Protein change Hide Protein change column Descending
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Posterior P Hide Posterior P column Descending
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IARC Class Hide IARC Class column Descending
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Key Observational Reference Hide Key Observational Reference column Descending
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Prior P reference Hide Prior P reference column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Splicing prior P Hide Splicing prior P column Descending
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Other Prior P Hide Other Prior P column Descending
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Combined prior P Hide Combined prior P column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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Sum Family LR Hide Sum Family LR column Descending
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Co-occurrence LR Hide Co-occurrence LR column Descending
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case-control LR Hide case-control LR column Descending
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Product of LRs Hide Product of LRs column Descending
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Comments Hide Comments column Descending
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Disease Hide Disease column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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Remarks Hide Remarks column Descending
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# Reported Hide # Reported column Descending
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- 27 c.9820T>G 10048T>G p.L3274V - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.936946366 1.024615386 - 0.960009663 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9838C>T 10066C>T p.P3280S 0.432579094 3 - Uncertain Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.17033623 1.049836689 - 0.178825223 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9875C>T 10103C>T p.P3292L 0.000107991 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.704751102 1.06 0.079197169 0.059024729 - 0.003492089 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9902C>G 10130C>G p.P3301R 0.906694706 3 - Uncertain Parsons et al 2019 - 0.81 - 0.02 0.81 - - 2.224654138 1.024615386 - 2.279414857 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9905G>A 10133G>A p.R3302K 0.008016438 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - 1.77 0.133940121 1.102157073 - 0.261292801 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9925G>A 10153G>A p.E3309K 0.002641492 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.085833993 1.511940977 - 0.129775931 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9936A>G 10164A>G p.I3312M - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.882488068 1.024615386 - 1.928826238 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10064G>A 10292G>A p.G3355D - - Parsons et al 2019 - - - 0.02 0.02 - - 0.714957389 1.024615386 - 0.732556341 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10070C>T 10298C>T p.T3357I 0.003951504 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.189721775 1.024615386 - 0.19439185 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10089A>G 10317A>G p.I3363M 0.006359597 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - 0.49 0.580706731 1.102157073 - 0.313614715 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10111A>G 10339A>G p.T3371A 0.179626888 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - - 7.096123587 1.511940977 - 10.72892003 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10112C>G 10340C>G p.T3371S - - Parsons et al 2019 - - - 0.02 0.02 - - 0.76950495 1.024615386 - 0.788446611 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10120A>G 10348A>G p.T3374A 0.009860343 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.432103023 1.129287087 - 0.487968364 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10121C>T 10349C>T p.T3374I 0.001457782 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.032852951 2.177448715 - 0.071535615 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10151G>A 10379G>A p.R3384Q - - Parsons et al 2019 - - - 0.02 0.02 - - 0.845804261 1.024615386 - 0.866624059 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10153C>T 10381C>T p.R3385C - - Parsons et al 2019 - - - 0.02 0.02 - - 1.538217837 1.024615386 - 1.576081662 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10154G>A 10382G>A p.R3385H - - Parsons et al 2019 - - - 0.02 0.02 - - 1.374436294 1.129287087 - 1.552133159 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10202C>T 10430C>T p.T3401M 0.103244092 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 1.9603 1.06 2.077729684 1.306681054 - 5.641401946 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10204G>A 10432G>A p.E3402K 0.009899089 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.478135484 1.024615386 - 0.489904974 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.10230C>A 10458C>A p.D3410E - - Parsons et al 2019 - - - 0.02 0.03 - - 0.93225069 1.129287087 - 1.052778665 - - United States:Salt Lake City DNA SEQ - 1
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Legend: [ BRCA2 full legend ]

Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. BIC DNA change: Variation at DNA-level, BIC format Protein change: Variation at protein level. Posterior P: Posterior probability IARC Class: IARC Class Key Observational Reference: Primary reference Prior P reference: Secondary reference Missense analysis Prior P: Align-GVGD prior probability Splicing prior P: Splicing prior probability Other Prior P: Custom Priors other than missense or splice (short legend) Combined prior P: Combined prior probability Segregation LR: Segregation likelihood ratio Pathology LR: Pathology likelihood ratio Sum Family LR: Summary Family History likelihood ratio Co-occurrence LR: Co-occurrence likelihood ratio case-control LR: case-control likelihood ratios from iCOGS (short legend) Product of LRs: Product of likelihood ratios Comments: alternate references, caveats, and additional information. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported

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