- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
HGNCID:
Tags
- pathogenicity: only 2 of 17 patients died from disease
- Family Information: not identified
- Mutation: c.4420A>G
- PMID (PubMed ID): 33846547
- Variant: Clinvar ID not identified
- GeneName: DICER1
- Mutation: 5428 G>C
- case mut: f 28-67
- Mutation: c.3580delA
- Mutation: c5113G>A
- case wt: m&f 0.5-19
- Mutation: c.5125G > A
- Mutation: c.5428G>T
- Mutation: c.5438 A> C
- Zygosity: Some Cases displayed homozygosity
- Mutation: c.4267G>T
- Inheritance Pattern: Non- inheritance(DNA methylation)
- Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
Annotators
URL
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- Mar 2021
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.6
AssayResultAssertion: Normal
StandardErrorMean: 0.8
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.232G>A p.(Val78Ile)
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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SUPPLEMENTARY DATA
AssayResult: 96.63
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
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To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.3306C>G p.(Ser1102Arg)
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Source Data
AssayResult: 112.08
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 4.1
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 94.54
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 19.94
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 106.23
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 14.57
StandardErrorMean: 10.3
Comment: Exact values reported in “Source Data” file.
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We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2792T>G p.(L931R)
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www.cell.com www.cell.com
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.8
AssayResultAssertion: Abnormal
ReplicateCount: 23
StandardErrorMean: 0.6
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2674T>A p.(Phe892Ile)
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- Feb 2021
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jmg.bmj.com jmg.bmj.com
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Supplemental material
AssayResult: 104
AssayResultAssertion: Normal
Comment: See Table S2 for details
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Supplemental material
AssayResult: 4.2
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.578A>C p.(His193Pro)
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