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    65 901 Results

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    Leyla Saab
    This document summarizes genetic variants identified in a sample from patient 6843. It lists 17 variants found across different genes, including missense, synonymous, splice region, and intron variants. For each variant, it provides information on the nucleotide change, resulting amino acid change or predicted effect, minor allele frequencies in population databases, zygosity, and sequence coverage. It evaluates the clinical significance of the variants based on American College of Medical Genetics criteria and lists the variant identifiers in public databases when available.

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    65 901 Results

    Uploaded by

    Leyla Saab
    25 views6 pages
    This document summarizes genetic variants identified in a sample from patient 6843. It lists 17 variants found across different genes, including missense, synonymous, splice region, and intron variants. For each variant, it provides information on the nucleotide change, resulting amino acid change or predicted effect, minor allele frequencies in population databases, zygosity, and sequence coverage. It evaluates the clinical significance of the variants based on American College of Medical Genetics criteria and lists the variant identifiers in public databases when available.

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    65_901_Results (2)

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    This document summarizes genetic variants identified in a sample from patient 6843. It lists 17 variants found across different genes, including missense, synonymous, splice region, and intron variants. For each variant, it provides information on the nucleotide change, resulting amino acid change or predicted effect, minor allele frequencies in population databases, zygosity, and sequence coverage. It evaluates the clinical significance of the variants based on American College of Medical Genetics criteria and lists the variant identifiers in public databases when available.

    Copyright:

    © All Rights Reserved
    Download as XLS, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    Download as xls, pdf, or txt
    25 views6 pages

    65 901 Results

    Uploaded by

    Leyla Saab
    This document summarizes genetic variants identified in a sample from patient 6843. It lists 17 variants found across different genes, including missense, synonymous, splice region, and intron variants. For each variant, it provides information on the nucleotide change, resulting amino acid change or predicted effect, minor allele frequencies in population databases, zygosity, and sequence coverage. It evaluates the clinical significance of the variants based on American College of Medical Genetics criteria and lists the variant identifiers in public databases when available.

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    of 6

    Muestra Cr.

    :Posición Gen Variante Variante Proteina Efecto


    Transcripto
    6843 12:12022765 ETV6 A -> G p.Arg291Gly missense variant
    c.871A>G

    6843 1:93300381 RPL5 T -> A p.Tyr79Asn missense variant


    c.235T>A

    6843 15:40993974 RAD51 ATT -> A c.226-5_226- splice region


    4delTT variant

    6843 20:57598878 TUBB1 C -> G p.Gly132Gly synonymous


    c.396C>G variant
    6843 15:43028832 CDAN1 C -> G p.Ser79Ser synonymous
    c.237G>C variant
    6843 10:79795376 RPS24 A -> G p.Gly59Gly synonymous
    c.177A>G variant
    6843 1:36937059 CSF3R AGTGGGA -> p.ArgProThr418Ar synonymous
    GGTGGGG gProThr variant
    c.1254_1260delT
    CCCACTinsCCCC
    ACC

    6843 10:27389439 ANKRD26 C -> A c.-184G>T upstream gene


    variant

    6843 15:89864316 FANCI GC -> GCTACC c.*4627_*4628in downstream


    sTACC gene variant

    6843 14:45650769 FANCM G -> T c.4317+42G>T intron variant

    6843 11:67814473 TCIRG1 C -> CT c.1166-408dupT intron variant

    6843 17:41262604 BRCA1 CA -> C c.135-4055delT intron variant

    6843 3:10103811 FANCD2 TAAAAAAAAAT -> c.1767-15delA intron variant


    TAAAAAAAAT
    6843 21:36262117 RUNX1 G -> A c.98-2724C>T intron variant
    6843 7:124488721 POT1 GAAAAAAAAAAA c.950-1687delT intron variant
    AAAAAAAG ->
    GAAAAAAAAAAA
    AAAAAAG
    6843 14:45664735 FANCM A -> G c.5341-640A>G intron variant

    6843 19:42364994 RPS19 TCC -> TCCC c.71+81dupC intron variant


    6843 16:23615042 PALB2 TA -> T c.3351-53delT intron variant

    6843 3:142231062 ATR TA -> T c.4852+39delT intron variant

    6843 19:42367914 RPS19 CT -> C c.185+2640delT intron variant

    6843 16:89845318 FANCA A -> G c.1776+33T>C intron variant

    6843 17:41249363 BRCA1 TAAAAAAAT -> c.548-64delT intron variant


    TAAAAAAT
    6843 3:142217422 ATR T -> C c.5558+17A>G intron variant

    6843 11:72065321 CLPB G -> GTATA c.865+4599_865 intron variant


    +4602dupTATA
    ACMG gnomAD Exome gnomAD Genome Frequency ExAC Cigosidad Coverage

    Uncertain_signific 4.078e-06 Heterocigosis 117/272


    ance
    PM2,BP4
    Uncertain_signific Heterocigosis 142/252
    ance
    PM2,BP1
    Uncertain_signific Homocigosis 6/6
    ance
    PM2
    Benign 0.002796 Heterocigosis 129/263
    BS1,BS2,BP4,BP7
    Likely_benign 0.002796 Heterocigosis 38/69
    BS1,BP4,BP7
    Benign 0.004193 Heterocigosis 133/261
    BS1,BS2,BP4,BP7
    Benign Heterocigosis 88/195
    BA1,BS1,BS2,BP4
    ,BP6,BP7

    Uncertain_signific 0.0009984 Heterocigosis 156/314


    ance
    BP6
    Heterocigosis 221

    Uncertain_signific Heterocigosis 124/273


    ance
    PM2
    Uncertain_signific Heterocigosis 45/101
    ance
    BS1
    Benign Heterocigosis 9/24
    BA1,BS1
    Benign Heterocigosis 210
    BA1,BS1
    0.0001997 Heterocigosis 36/98
    Heterocigosis 73

    Uncertain_signific Heterocigosis 70/150


    ance
    PM2
    Heterocigosis 228
    Benign Heterocigosis 12/66
    BA1,BS1
    Benign Heterocigosis 28/77
    BA1,BS1
    Uncertain_signific Heterocigosis 46/120
    ance
    PM2
    Uncertain_signific Heterocigosis 173/337
    ance
    PM2
    Benign Heterocigosis 51
    BA1,BS1,BP6
    Uncertain_signific Heterocigosis 79/159
    ance
    PM2
    Uncertain_signific Heterocigosis 14/50
    ance
    PM2
    FS GQ Qual RefSeq ID dbSNP Comment

    4.2 99 3,301.6

    16.5 99 4,221.6

    0 18 132.9 rs797004832

    0 99 4,038.6 rs61757565

    2.1 99 1,037.6 rs180857061

    0 99 4,068.6 rs6496

    99 2,944

    2.5 99 4,813.6 rs527666933

    1.6 99 4,408.6 rs2307433

    0.4 99 3,477.6

    2.3 99 463.7 rs5792432,


    rs780321404

    5.4 91 83.6 rs201518255

    0 99 2,419.6 rs34177396

    5.5 99 961.6 rs575027606


    2.5 99 418.6

    3.8 99 2,110.6

    1.6 99 4,240.6 rs35686174


    5.9 99 111.6 rs35294437,
    rs397855890
    5.6 99 277.6 rs776838660

    5.1 99 391.6

    0.4 99 5,209.6 rs368910570

    1.5 99 899.6 rs8176144


    3.4 99 2,477.6 rs369733744

    1.6 99 470.6

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