Unique variants in the PLN gene

Information The variants shown are described using the NM_002667.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-66562C>G r.(?) p.(=) - likely benign g.118803091C>G g.118481928C>G CEP85L(NM_001042475.2):c.1596G>C (p.(Gln532His)) - PLN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.-150G>A r.(?) p.(=) - benign g.118869503G>A g.118548340G>A PLN(NM_002667.3):c.-150G>A - PLN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-97-173_-97-164del r.(=) p.(=) - likely benign g.118879815_118879824del g.118558652_118558661del PLN(NM_002667.3):c.-97-173_-97-164delCACACACACA - PLN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-97-165_-97-164dup r.(=) p.(=) - benign g.118879823_118879824dup g.118558660_118558661dup PLN(NM_002667.3):c.-97-166_-97-165dupAC - PLN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-97-123A>G r.(=) p.(=) - likely benign g.118879865A>G g.118558702A>G PLN(NM_002667.3):c.-97-123A>G - PLN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-97-9A>G r.(=) p.(=) - likely benign g.118879979A>G - PLN(NM_002667.3):c.-97-9A>G - PLN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-97-2A>T r.spl p.? - VUS g.118879986A>T g.118558823A>T - - PLN_000052 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
-?/. 1 - c.-61G>C r.(?) p.(=) - likely benign g.118880024G>C g.118558861G>C - - PLN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 - c.-56C>T r.(?) p.(=) - benign, likely benign g.118880029C>T g.118558866C>T PLN(NM_002667.3):c.-56C>T - PLN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.-211_*1344{2} r.? p.? ACMG VUS g.118832413_118953777dup - - - PLN_000060 - PubMed: Singer 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 1 1 c.4G>T r.(?) p.(Glu2*) - pathogenic g.118880088G>T g.118558925G>T - - PLN_000033 1 more item PubMed: Li 2018 - - Germline yes - ? - - Jilani Jawaid
?/. 1 - c.13C>G r.(?) p.(Gln5Glu) - VUS g.118880097C>G g.118558934C>G PLN(NM_002667.3):c.13C>G (p.Q5E) - PLN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.25C>T r.(?) p.(Arg9Cys) - pathogenic g.118880109C>T g.118558946C>T PLN(NM_002667.3):c.25C>T (p.R9C) - PLN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., +?/., ?/. 3 2 c.26G>A r.(?) p.(Arg9His) - likely pathogenic, pathogenic, VUS g.118880110G>A g.118558947G>A NM_002667:c.G26A, PLN(NM_002667.3):c.26G>A (p.R9H) - PLN_000021 VKGL data sharing initiative Nederland PubMed: Lopes 2013, Journal: Lopes 2013 - - CLASSIFICATION record, Germline - 1/223 cases HCM - - - Johan den Dunnen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/., -?/. 4 - c.27C>T r.(?) p.(Arg9=) - benign, likely benign g.118880111C>T g.118558948C>T 1 more item - PLN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.34dup r.(?) p.(Ile12Asnfs*8) - likely pathogenic g.118880118dup - PLN(NM_002667.5):c.34dupA (p.I12Nfs*8) - PLN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.37dup r.(?) p.(Arg13Lysfs*7) - VUS g.118880121dup g.118558958dup 37dupA - PLN_000053 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/740 cases - - - Johan den Dunnen
+/., ?/. 8 2 c.40_42del r.(?) p.(Arg14del) - pathogenic, VUS g.118880124_118880126del g.118558961_118558963del 40_42delAGA, PLN(NM_002667.3):c.40_42delAGA (p.R14del), PLN(NM_002667.5):c.40_42delAGA (p.R14del) - PLN_000020, PLN_000028 ACMG PS3 PS4-M PM2 PM4 PP1 PP5; no genotypes reported, VKGL data sharing initiative Nederland PubMed: Brun 2014, Journal: Brun 2014, PubMed: Nguyen 2021, PubMed: Walsh 2017, 1 more item - - CLASSIFICATION record, Germline ? 1/740 cases - - - Johan den Dunnen, Terry Vrijenhoek, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.43G>A r.(?) p.(Ala15Thr) - VUS g.118880127G>A g.118558964G>A - - PLN_000054 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/740 cases - - - Johan den Dunnen
?/. 1 - c.46T>C r.(?) p.(Ser16Pro) - VUS g.118880130T>C g.118558967T>C - - PLN_000055 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
?/. 1 2 c.53T>C r.(?) p.(Ile18Thr) - VUS g.118880137T>C g.118558974T>C NM_002667:c.T53C - PLN_000023 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. 1 - c.61C>A r.(?) p.(Pro21Thr) - VUS g.118880145C>A g.118558982C>A - - PLN_000056 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/740 cases - - - Johan den Dunnen
?/. 1 - c.63_64dup r.(?) p.(Gln22Leufs*19) - VUS g.118880147_118880148dup g.118558984_118558985dup - - PLN_000057 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
+/., ?/. 2 2 c.73C>T r.(?) p.(Arg25Cys) - pathogenic, VUS g.118880157C>T g.118558994C>T NM_002667:c.C73T, PLN(NM_002667.5):c.73C>T (p.R25C) - PLN_000024 VKGL data sharing initiative Nederland PubMed: Lopes 2013, Journal: Lopes 2013 - - CLASSIFICATION record, Germline - 1/223 cases HCM - - - Johan den Dunnen, VKGL-NL_AMC
+/. 4 2 c.116T>G r.(?) p.(Leu39*), p.(Leu39Ter) - pathogenic g.118880200T>G g.118559037T>G PLN(NM_002667.5):c.116T>G (p.L39*) - PLN_000032 VKGL data sharing initiative Nederland PubMed: Chiu 2007, PubMed: Walsh 2017 - - CLASSIFICATION record, Germline - 1/632 cases - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
+?/. 1 - c.121T>A r.(?) p.(Cys41Ser) - likely pathogenic g.118880205T>A g.118559042T>A - - PLN_000058 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
?/. 1 - c.138dup r.(?) p.(Ile47Tyrfs*14) - VUS g.118880222dup g.118559059dup - - PLN_000059 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
?/. 1 - c.149T>C r.(?) p.(Met50Thr) - VUS g.118880233T>C g.118559070T>C PLN(NM_002667.5):c.149T>C (p.M50T) - PLN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 2 c.152T>C r.(?) p.(Leu51Pro) - VUS g.118880236T>C g.118559073T>C NM_002667:c.T152C - PLN_000022 VUS favour pathogenic PubMed: Lopes 2013, Journal: Lopes 2013, PubMed: Walsh 2017 - - Germline - 1/223 cases HCM, 1/632 cases - - - Johan den Dunnen
?/. 1 - c.155T>C r.(?) p.(Leu52Pro) - VUS g.118880239T>C g.118559076T>C PLN(NM_002667.3):c.155T>C (p.L52P) - PLN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.158G>T r.(?) p.(Ter53LeuextTer29) - likely pathogenic g.118880242G>T g.118559079G>T - - PLN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.*20G>C r.(=) p.(=) - VUS g.118880263G>C g.118559100G>C PLN(NM_002667.3):c.*20G>C - PLN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*23C>A r.(=) p.(=) - benign g.118880266C>A g.118559103C>A PLN(NM_002667.3):c.*23C>A - PLN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*229T>C r.(=) p.(=) - likely benign g.118880472T>C g.118559309T>C - - PLN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*330C>G r.(=) p.(=) - likely benign g.118880573C>G g.118559410C>G - - PLN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*397T>G r.(=) p.(=) - benign g.118880640T>G g.118559477T>G - - PLN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*795T>A r.(=) p.(=) - likely benign g.118881038T>A g.118559875T>A - - PLN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*1226G>A r.(=) p.(=) - likely benign g.118881469G>A g.118560306G>A - - PLN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.*1243C>T r.(=) p.(=) - likely benign g.118881486C>T g.118560323C>T PLN(NM_002667.3):c.*1243C>T - PLN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 2 - c.*1279G>A r.(=) p.(=) - likely benign g.118881522G>A g.118560359G>A PLN(NM_002667.3):c.*1279G>A - PLN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.*1337G>A r.(=) p.(=) - likely benign g.118881580G>A g.118560417G>A PLN(NM_002667.3):c.*1337G>A - PLN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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