Full data view for gene DFNA5

NOTE: gene name changed from DFNA5 to GSDME
Information The variants shown are described using the transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-8135039_*1550995del r.0? p.0? Unknown - pathogenic g.23187650_32932034del - - - ADCYAP1R1_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.119dup r.(?) p.(Lys41Glufs*113) Unknown - likely pathogenic g.24789280dup g.24749661dup g.13365dup - DFNA5_000017 - - ClinVar-228555 rs758488919 De novo - - - - - DNA SEQ-NG-I blood - deafness - - - F no Heard and McDonald Islands - - - - - 1 Viviana Karina Dalamón
-/. - c.405-15G>A r.(=) p.(=) Unknown - benign g.24758852C>T g.24719233C>T GSDME(NM_004403.3):c.405-15G>A - DFNA5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.424C>A r.(?) p.(Pro142Thr) Unknown - benign g.24758818G>T g.24719199G>T GSDME(NM_004403.3):c.424C>A (p.P142T) - DFNA5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.447A>G r.(?) p.(Glu149=) Unknown - benign g.24758795T>C g.24719176T>C GSDME(NM_004403.3):c.447A>G (p.E149=) - DFNA5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.489G>A r.(?) p.(Thr163=) Unknown - benign g.24758753C>T g.24719134C>T GSDME(NM_004403.3):c.489G>A (p.T163=) - DFNA5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.521T>C r.(?) p.(Met174Thr) Unknown - likely benign g.24758721A>G g.24719102A>G DFNA5(NM_004403.2):c.521T>C (p.M174T) - DFNA5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.553G>A r.(?) p.(Gly185Ser) Parent #1 - VUS g.24758689C>T g.24719070C>T - - DFNA5_000038 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.559C>T r.(?) p.(Gln187Ter) Unknown - likely benign g.24758683G>A g.24719064G>A - - DFNA5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.587C>T r.(?) p.(Thr196Met) Unknown - likely benign g.24756983G>A g.24717364G>A DFNA5(NM_004403.2):c.587C>T (p.T196M) - DFNA5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.612C>T r.(?) p.(Asp204=) Unknown - likely benign g.24756958G>A g.24717339G>A DFNA5(NM_004403.2):c.612C>T (p.D204=) - DFNA5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.619G>A r.(?) p.(Val207Met) Unknown - benign g.24756951C>T g.24717332C>T GSDME(NM_004403.3):c.619G>A (p.V207M) - DFNA5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 5 c.642dup r.(?) p.(Thr215Hisfs*9) Parent #1 - benign g.24756929dup g.24717310dup - - DFNA5_000037 - MORL Deafness Variation Database, PubMed: Van Laer 2007 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Van Laer 2007 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.675C>G r.(?) p.(Tyr225*) Unknown - likely pathogenic g.24756895G>C - - - DFNA5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.686dup r.(?) p.(Asp229GlufsTer23) Unknown - VUS g.24756884dup - GSDME(NM_004403.2):c.686dupA (p.D229Efs*23) - DFNA5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712C>T r.(?) p.(Arg238Ter) Unknown - VUS g.24749993G>A g.24710374G>A DFNA5(NM_004403.2):c.712C>T (p.R238*) - DFNA5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.712C>T r.(?) p.(Arg238Ter) Unknown - likely benign g.24749993G>A g.24710374G>A DFNA5(NM_004403.2):c.712C>T (p.R238*) - DFNA5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.781C>T r.(?) p.(Arg261*) Parent #1 - likely pathogenic g.24749924G>A g.24710305G>A - - DFNA5_000036 - MORL Deafness Variation Database, PubMed: Mutai 2013 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Mutai 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 6 c.826T>C r.(?) p.(Ser276Pro) Parent #1 - likely benign g.24749879A>G g.24710260A>G - - DFNA5_000035 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 6i c.862+11_862+12insG r.(=) p.(=) Parent #1 - likely benign g.24749831_24749832insC g.24710212_24710213insC - - DFNA5_000034 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.863-1G>A r.spl? p.? Unknown - pathogenic g.24747874C>T - GSDME(NM_004403.2):c.863-1G>A - DFNA5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864G>A r.(?) p.(Ala288=) Unknown - likely benign g.24747872C>T g.24708253C>T DFNA5(NM_004403.2):c.864G>A (p.A288=) - DFNA5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.939C>T r.(?) p.(Ile313=) Unknown - likely benign g.24747797G>A g.24708178G>A DFNA5(NM_004403.2):c.939C>T (p.I313=) - DFNA5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 7 c.969A>G r.(=) p.(=) Parent #1 - likely benign g.24747767T>C g.24708148T>C - - DFNA5_000033 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 7i_8i c.[990+793_1007del;1029_1183+1376del] r.? p.? Unknown ACMG pathogenic (dominant) g.[24745979_24746953del;24744427_24745957del] - - - DFNA5_000045 - PubMed: Mansard et al., 2022 - - Unknown ? - - - - DNA SEQ, SEQ-NG-I blood - DFNA5 FR01210652950/FamS2106 PubMed: Mansard 2022 2-generation family, 8 affected (4F, M, 3 fetuses) M no France - - - - - 8 David Baux
+/. 7i_8 c.991-60_1095del r.991_1183del p.? Paternal (confirmed) ACMG pathogenic (dominant) g.24745893_24746057del g.24706274_24706438del - - DFNA5_000046 - PubMed: Mansard et al., 2022 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-I blooddfna - DFNA, DFNA5 FR01242660041/FamS2426 PubMed: Mansard 2022 5-generation family, 16 affected (13F, 3M) F no France - - - - - 16 David Baux
+/. - c.991-15_991-13del r.(=) p.(=) Unknown - pathogenic g.24746015_24746017del g.24706396_24706398del - - DFNA5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7i c.991-15_991-13del r.(=) p.(=) Parent #1 - pathogenic g.24746015_24746017del g.24706396_24706398del - - DFNA5_000014 - MORL Deafness Variation Database, PubMed: Van Laer 1998, PubMed: Yu 2003, PubMed: Bischoff 2004, PubMed: Park 2010, PubMed: Shearer 1993, PubMed: Cheng 2007, PubMed: Duzkale 2013, PubMed: Nishio 2014 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Van Laer 1998, PubMed: Yu 2003, PubMed: Bischoff 2004, PubMed: Park 2010, PubMed: Shearer 1993, PubMed: Cheng 2007, PubMed: Duzkale 2013, PubMed: Nishio 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.991-15_991-13del r.(?) p.? Unknown ACMG likely pathogenic g.24746008_24746010del g.24706396_24706398del NM_004403.2:c.991-15_991-13delTTC - DFNA5_000043 ACMG PM2, PP1_S, PP3 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB195-429 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
?/. - c.991-15_991-13del r.(991_1183del) p.(Cys331fs) Parent #1 - VUS g.24746015_24746017del g.24706396_24706398del - - DFNA5_000014 effect on splicing predicted from mini-gene splicing assay PubMed: Chen 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL FamC PubMed: Chen 2021 6-generation family, 24 affected (6F, 18M) F;M - China - - - - - 24 Johan den Dunnen
+/. - c.991-6C>G r.(=) p.(=) Unknown - pathogenic g.24746001G>C g.24706382G>C - - DFNA5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7i c.991-6C>G r.(=) p.(=) Parent #1 - pathogenic g.24746001G>C g.24706382G>C - - DFNA5_000013 - MORL Deafness Variation Database, PubMed: Bischoff 2004 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Bischoff 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 7i c.991-2A>G r.spl? p.? Parent #1 - pathogenic g.24745997T>C g.24706378T>C - - DFNA5_000032 - MORL Deafness Variation Database, PubMed: Chai 2014 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Chai 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 8 c.991T>C r.(?) p.(Cys331Arg) Parent #1 - VUS g.24745995A>G g.24706376A>G - - DFNA5_000031 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1008C>T r.(?) p.(Ser336=) Unknown - VUS g.24745978G>A - - - DFNA5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1061A>C r.(?) p.(Gln354Pro) Unknown - likely benign g.24745925T>G g.24706306T>G DFNA5(NM_004403.2):c.1061A>C (p.Q354P) - DFNA5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1086_1099del r.(?) p.(Val363ThrfsTer32) Unknown - likely benign g.24745894_24745907del g.24706275_24706288del - - DFNA5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1102C>G r.(?) p.(Gln368Glu) Parent #1 - pathogenic g.24745884G>C g.24706265G>C - - DFNA5_000030 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - - - - - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1111T>G r.(?) p.(Cys371Gly) Unknown - likely benign g.24745875A>C g.24706256A>C DFNA5(NM_004403.2):c.1111T>G (p.C371G) - DFNA5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1116G>A r.(?) p.(Pro372=) Unknown - likely benign g.24745870C>T g.24706251C>T - - DFNA5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 8 c.1118G>A r.(?) p.(Gly373Asp) Parent #1 - VUS g.24745868C>T g.24706249C>T - - DFNA5_000029 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 8 c.1122C>T r.(=) p.(=) Parent #1 - likely benign g.24745864G>A g.24706245G>A - - DFNA5_000028 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1162T>C r.(?) p.Phe388Leu Unknown - VUS g.24745824A>G g.24706205A>G - - DFNA5_000001 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
?/. - c.1162T>C r.(?) p.(Phe388Leu) Unknown - VUS g.24745824A>G g.24706205A>G - - DFNA5_000001 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
?/. - c.1182A>C r.(?) p.(Ala394=) Unknown - VUS g.24745804T>G - - - DFNA5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1183G>A r.(?) p.(Glu395Lys) Unknown - pathogenic g.24745803C>T g.24706184C>T - - DFNA5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1183G>T r.(?) p.(Glu395Ter) Unknown - likely pathogenic g.24745803C>A - - - DFNA5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8i c.1183+4A>G r.spl? p.? Parent #1 - pathogenic g.24745799T>C g.24706180T>C - - DFNA5_000027 - MORL Deafness Variation Database, PubMed: Cheng 2007, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Cheng 2007, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.1183+5G>A r.991_1183del p.Cys331Lysfs*42 Unknown - pathogenic (dominant) g.24745798C>T g.24706179C>T - - DFNA5_000050 transcripts cycloheximide insensitive PubMed: Bournazos 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-RNA fibroblasts singleton WES ? A060 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - 1 Johan den Dunnen
-?/. - c.1198G>A r.(?) p.(Ala400Thr) Unknown - likely benign g.24742438C>T g.24702819C>T DFNA5(NM_004403.2):c.1198G>A (p.A400T) - DFNA5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1199C>T r.(?) p.(Ala400Val) Parent #1 - likely benign g.24742437G>A g.24702818G>A - - DFNA5_000039 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs71535705 Germline - 18/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 18 Mohammed Faruq
-/. - c.1199_1200inv r.(?) p.(Ala400Val) Unknown - benign g.24742436_24742437inv - - - DFNA5_000052 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1277_1279del r.(?) p.(Asp426del) Unknown - VUS g.24738862_24738864del g.24699243_24699245del DFNA5(NM_004403.2):c.1277_1279delATG (p.D426del) - DFNA5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1348C>T r.(?) p.(Arg450Cys) Unknown - VUS g.24738788G>A g.24699169G>A DFNA5(NM_004403.2):c.1348C>T (p.R450C) - DFNA5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 10 c.1355T>C r.(?) p.(Phe452Ser) Parent #1 - VUS g.24738781A>G g.24699162A>G - - DFNA5_000026 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 10 c.1416G>A r.(=) p.(=) Parent #1 - likely benign g.24738720C>T g.24699101C>T - - DFNA5_000025 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1490G>C r.(?) p.(*497Serext*4) Unknown - VUS g.24738646C>G - - - DFNA5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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