Full data view for gene NUS1

Information The variants shown are described using the NM_138459.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

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ID_report     

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+/+ 1_5 c.(-194_*1573dup) - - Unknown - pathogenic g.(117996640_118029751dup) - g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - NUS1_000001 the additional copy of this sequence is inserted in SLC25A13 intron 16 on chromosome 7 PubMed: Tabata 2008, Journal: Tabata 2008 - - DUPLICATE record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-16= r.(=) p.(=) Unknown - benign g.117996818T>C - - - NUS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.15C>G r.(?) p.(Tyr5*) Unknown - pathogenic g.117996848C>G - NUS1(NM_138459.5):c.15C>G (p.Y5*) - NUS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.27G>A r.(?) p.(Trp9*) Unknown - pathogenic g.117996860G>A - NUS1(NM_138459.5):c.27G>A (p.W9*) - NUS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.28_29dup r.(?) p.(Val11Glyfs*40) Unknown - likely pathogenic g.117996861_117996862dup g.117675698_117675699dup 28_29dupCG - NUS1_000005 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. - c.51T>A r.(?) p.(Cys17*) Unknown - likely pathogenic g.117996884T>A - - - NUS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68C>T r.(?) p.(Thr23Ile) Unknown - likely benign g.117996901C>T - NUS1(NM_138459.4):c.68C>T (p.T23I) - NUS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75G>C r.(?) p.(Trp25Cys) Both (homozygous) - likely benign g.117996908G>C g.117675745G>C - - NUS1_000032 no match with clinical features homozygous patients (epilepsy, cerebellar ataxia, ID, cortical myoclonus PubMed: Bayam 2024 - - Germline - - - - - DNA SEQ-NG-I - - ? Fam3PatII2 2-generation family, affected fetus/boy, unaffected heterozygous carrier parents PubMed: Bayam 2024 M yes Saudi Arabia Arab - - - - 1 Zafer Yuksel
+/. - c.128_141dup r.(?) p.(Val48Profs*7) Unknown - pathogenic (dominant) g.117996961_117996974dup g.117675798_117675811dup NM_138459.4:c.128_141dup (V48Pfs*7) - NUS1_000023 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0623 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.200G>C r.(?) p.(Arg67Pro) Unknown - VUS g.117997033G>C - NUS1(NM_138459.5):c.200G>C (p.(Arg67Pro)) - NUS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271G>A r.(?) p.(Gly91Ser) Unknown - VUS g.117997104G>A - NUS1(NM_138459.5):c.271G>A (p.G91S) - NUS1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.283G>T r.(?) p.(Glu95Ter) Unknown - likely pathogenic g.117997116G>T g.117675953G>T NUS1(NM_138459.5):c.283G>T (p.E95*) - NUS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.310del r.(?) p.(Val104*) Unknown ACMG pathogenic g.117997143del g.117675980del 310delG - NUS1_000012 ACMG PVS1, PM2, PM6, PP4; The patient's electroclinical phenotype is consistent with previous reports for this gene, with early childhood onset myoclonus, subsequent cognitive decline and cerebellar atrophy. The novel frameshift variant is confirmed de novo and functional studies support the damaging in silico predications. Thus, it is with high confidence we establish NUS1 as a new PME gene. PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - DNA SEQ, SEQ-NG WES trio - MRD PME2 PubMed: Courage 2021, Journal: Courage 2021 - F no Italy - - - - - 1 Carolina Courage
?/. - c.383G>A r.(?) p.(Gly128Asp) Unknown - VUS g.117997216G>A - NUS1(NM_138459.5):c.383G>A (p.G128D) - NUS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i_2i c.416-1132_541+47del r.(?) p.(Gly139_Gln180del) Unknown - likely pathogenic g.118013073_118014377del g.117691910_117693214del - - NUS1_000024 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0627 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
+?/. - c.416-1G>A r.spl? p.? Unknown - likely pathogenic g.118014204G>A g.117693041G>A - - NUS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.451G>T r.(?) p.(Glu151*) Unknown - likely pathogenic g.118014240G>T - - - NUS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.486dup r.(?) p.(Asp163Argfs*12) Unknown ACMG likely pathogenic g.118014275dup g.117693112dup - - NUS1_000028 observed in siblings with similar phenotypic features; not present in mother, father not tested (so far) - - - Germline yes - - - - DNA SEQ-NG-I peripheral blood WES autism - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. - c.494C>G r.(?) p.(Ser165*) Unknown ACMG likely pathogenic g.118014283C>G - - - NUS1_000008 ACMG grading: PVS1,PM2 intelligence reduction and epilepsy (or path. EEG with gen. spikes and frontal ETP's/attack patterns), discrete dyskinesia, scoliotic posture - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+?/. - c.611C>A r.(?) p.(Ala204Asp) Unknown - likely pathogenic g.118015263C>A - - - NUS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.671A>G r.(?) p.(Asp224Gly) Unknown ACMG VUS g.118015323A>G - - - NUS1_000013 ACMG: PS2, PM2_SUP - - - De novo ? - - - - DNA SEQ-NG-I - - MRD55 182970 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.671A>G r.(?) p.(Asp224Gly) Unknown - likely pathogenic g.118015323A>G - - - NUS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.672_673del r.(?) p.(Thr225Valfs*6) Unknown - likely pathogenic g.118015324_118015325del g.117694161_117694162del 672_673delTA - NUS1_000002 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. - c.673dup r.(?) p.(Thr225Asnfs*7) Unknown - likely pathogenic g.118015325dup - - - NUS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.674C>T r.(?) p.(Thr225Met) Unknown - likely benign g.118015326C>T - NUS1(NM_138459.3):c.674C>T (p.(Thr225Met)) - NUS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.732C>T r.(?) p.(=) Unknown - likely benign g.118024808C>T - NUS1(NM_138459.5):c.732C>T (p.(Phe244=)) - NUS1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.740dup r.(?) p.(Asp248Glyfs*15) Unknown ACMG pathogenic g.118024816dup g.117703653dup 740dupT - NUS1_000011 ACMG PVS1, PM2, PM6, PP4; Although the patient has later age at onset, intact cognition and no scoliosis, the electroclinical phenotype shares some features with those previously reported for this gene, with prominent myoclonus. The novel frameshift variant is confirmed de novo and functional studies support the damaging in silico predications. Thus, it is with high confidence we establish NUS1 as a new PME gene. PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - DNA SEQ, SEQ-NG WES trio - MRD PME1 PubMed: Courage 2021, Journal: Courage 2021 - M no Italy - - - - - 1 Carolina Courage
+/. - c.743del r.(?) p.(Asp248Alafs*4) Unknown - likely pathogenic (dominant) g.118024819del g.117703656del 743delA - NUS1_000025 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ-NG - WES clinical DEE indvKW PubMed: Hamdan 2017 - M - United States - - - - - 1 Johan den Dunnen
?/. - c.749_753del r.(?) p.(Thr250ArgfsTer11) Unknown - VUS g.118024825_118024829del g.117703662_117703666del NUS1(NM_138459.3):c.749_753delCATTA (p.(Thr250fs)) - NUS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.791+4A>G r.spl? p.? Unknown - likely pathogenic g.118024871A>G - NUS1(NM_138459.5):c.791+4A>G - NUS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.842T>G r.(?) p.(Leu281Arg) Unknown - VUS g.118028138T>G - NUS1(NM_138459.5):c.842T>G (p.L281R) - NUS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.875G>A r.(?) p.(Gly292Glu) Unknown - VUS g.118028171G>A - NUS1(NM_138459.5):c.875G>A (p.G292E) - NUS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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