| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000275493(MANE Select) | EGFR | Deleterious | 96|4 | simple_ | No | Single base exchange | Normal |
| |||||
| EGFR | Deleterious | 98|2 | simple_ | No | Single base exchange | Normal |
| ||||||
| EGFR | Deleterious | 99|1 | simple_ | No | Single base exchange | Normal |
| ||||||
| EGFR | Deleterious | 99|1 | simple_ | No | Single base exchange | Normal |
| ||||||
| EGFR | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| EGFR | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:55154129C>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | EGFR | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.47, LOF (oe): 0.38, misssense (oe): 0.79, synonymous (oe): 0.99 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000275493.7 | |||||||||||||||||||||
| Genbank transcript ID | NM_005228 (exact from MANE), NM_001346899 (by similarity), NM_001346941 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | EGFR_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.866C>G g.135113C>G | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | 24 | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 7 | |||||||||||||||||||||
| Strand | 1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Altered gDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Original cDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Altered cDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Wildtype AA sequence | MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP RDCVSCRNVS RGRECVDKCN LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM GENNTLVWKY ADAGHVCHLC HPNCTYGCTG PGLEGCPTNG PKIPSIATGM VGALLLLLVV ALGIGLFMRR RHIVRKRTLR RLLQERELVE PLTPSGEAPN QALLRILKET EFKKIKVLGS GAFGTVYKGL WIPEGEKVKI PVAIKELREA TSPKANKEIL DEAYVMASVD NPHVCRLLGI CLTSTVQLIT QLMPFGCLLD YVREHKDNIG SQYLLNWCVQ IAKGMNYLED RRLVHRDLAA RNVLVKTPQH VKITDFGLAK LLGAEEKEYH AEGGKVPIKW MALESILHRI YTHQSDVWSY GVTVWELMTF GSKPYDGIPA SEISSILEKG ERLPQPPICT IDVYMIMVKC WMIDADSRPK FRELIIEFSK MARDPQRYLV IQGDERMHLP SPTDSNFYRA LMDEEDMDDV VDADEYLIPQ QGFFSSPSTS RTPLLSSLSA TSNNSTVACI DRNGLQSCPI KEDSFLQRYS SDPTGALTED SIDDTFLPVP EYINQSVPKR PAGSVQNPVY HNQPLNPAPS RDPHYQDPHS TAVGNPEYLN TVQPTCVNST FDSPAHWAQK GSHQISLDNP DYQQDFFPKE AKPNGIFKGS TAENAEYLRV APQSSEFIGA * | |||||||||||||||||||||
| Mutated AA sequence | MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGGT CVKKCPRNYV VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP RDCVSCRNVS RGRECVDKCN LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM GENNTLVWKY ADAGHVCHLC HPNCTYGCTG PGLEGCPTNG PKIPSIATGM VGALLLLLVV ALGIGLFMRR RHIVRKRTLR RLLQERELVE PLTPSGEAPN QALLRILKET EFKKIKVLGS GAFGTVYKGL WIPEGEKVKI PVAIKELREA TSPKANKEIL DEAYVMASVD NPHVCRLLGI CLTSTVQLIT QLMPFGCLLD YVREHKDNIG SQYLLNWCVQ IAKGMNYLED RRLVHRDLAA RNVLVKTPQH VKITDFGLAK LLGAEEKEYH AEGGKVPIKW MALESILHRI YTHQSDVWSY GVTVWELMTF GSKPYDGIPA SEISSILEKG ERLPQPPICT IDVYMIMVKC WMIDADSRPK FRELIIEFSK MARDPQRYLV IQGDERMHLP SPTDSNFYRA LMDEEDMDDV VDADEYLIPQ QGFFSSPSTS RTPLLSSLSA TSNNSTVACI DRNGLQSCPI KEDSFLQRYS SDPTGALTED SIDDTFLPVP EYINQSVPKR PAGSVQNPVY HNQPLNPAPS RDPHYQDPHS TAVGNPEYLN TVQPTCVNST FDSPAHWAQK GSHQISLDNP DYQQDFFPKE AKPNGIFKGS TAENAEYLRV APQSSEFIGA * | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3633 / 3633 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1211 / 1211 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3894 / 3894 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 262 / 262 | |||||||||||||||||||||
| Last intron/exon boundary | 3532 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 3220 | |||||||||||||||||||||
| Length of CDS | 3633 | |||||||||||||||||||||
| Coding sequence (CDS) position | 866 | |||||||||||||||||||||
| cDNA position | 1127 | |||||||||||||||||||||
| gDNA position | 135113 | |||||||||||||||||||||
| Chromosomal position | 55154129 | |||||||||||||||||||||
| Speed | 0.06 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:55154129C>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | EGFR | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.50, LOF (oe): 0.37, misssense (oe): 0.78, synonymous (oe): 1.04 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000344576.7 | |||||||||||||||||||||
| Genbank transcript ID | NM_201284 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | EGFR_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.866C>G g.135113C>G | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | 24 | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 7 | |||||||||||||||||||||
| Strand | 1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Altered gDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Original cDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Altered cDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Wildtype AA sequence | MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP RDCVSCRNVS RGRECVDKCN LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM GENNTLVWKY ADAGHVCHLC HPNCTYGPGN ESLKAMLFCL FKLSSCNQSN DGSVSHQSGS PAAQESCLGW IPSLLPSEFQ LGWGGCSHLH AWPSASVIIT ASSCH* | |||||||||||||||||||||
| Mutated AA sequence | MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGGT CVKKCPRNYV VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP RDCVSCRNVS RGRECVDKCN LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM GENNTLVWKY ADAGHVCHLC HPNCTYGPGN ESLKAMLFCL FKLSSCNQSN DGSVSHQSGS PAAQESCLGW IPSLLPSEFQ LGWGGCSHLH AWPSASVIIT ASSCH* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2118 / 2118 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 706 / 706 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2379 / 2379 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 262 / 262 | |||||||||||||||||||||
| Last intron/exon boundary | 2141 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 1829 | |||||||||||||||||||||
| Length of CDS | 2118 | |||||||||||||||||||||
| Coding sequence (CDS) position | 866 | |||||||||||||||||||||
| cDNA position | 1127 | |||||||||||||||||||||
| gDNA position | 135113 | |||||||||||||||||||||
| Chromosomal position | 55154129 | |||||||||||||||||||||
| Speed | 0.07 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:55154129C>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | EGFR | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.66, LOF (oe): 0.47, misssense (oe): 0.77, synonymous (oe): 1.08 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000420316.6 | |||||||||||||||||||||
| Genbank transcript ID | NM_201283 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | EGFR_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.866C>G g.135113C>G | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | 24 | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 7 | |||||||||||||||||||||
| Strand | 1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Altered gDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Original cDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Altered cDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Wildtype AA sequence | MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGLS* | |||||||||||||||||||||
| Mutated AA sequence | MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGGT CVKKCPRNYV VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGLS* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1218 / 1218 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 406 / 406 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1462 / 1462 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 245 / 245 | |||||||||||||||||||||
| Last intron/exon boundary | 1377 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 1082 | |||||||||||||||||||||
| Length of CDS | 1218 | |||||||||||||||||||||
| Coding sequence (CDS) position | 866 | |||||||||||||||||||||
| cDNA position | 1110 | |||||||||||||||||||||
| gDNA position | 135113 | |||||||||||||||||||||
| Chromosomal position | 55154129 | |||||||||||||||||||||
| Speed | 0.06 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:55154129C>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | EGFR | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.49, LOF (oe): 0.37, misssense (oe): 0.77, synonymous (oe): 1.04 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000342916.7 | |||||||||||||||||||||
| Genbank transcript ID | NM_201282 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | EGFR_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.866C>G g.135113C>G | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | 24 | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 7 | |||||||||||||||||||||
| Strand | 1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Altered gDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Original cDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Altered cDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||||||||||
| Wildtype AA sequence | MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP RDCVSCRNVS RGRECVDKCN LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM GENNTLVWKY ADAGHVCHLC HPNCTYGS* | |||||||||||||||||||||
| Mutated AA sequence | MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGGT CVKKCPRNYV VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP RDCVSCRNVS RGRECVDKCN LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM GENNTLVWKY ADAGHVCHLC HPNCTYGS* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1887 / 1887 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 629 / 629 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2133 / 2133 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 247 / 247 | |||||||||||||||||||||
| Last intron/exon boundary | 2126 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 1829 | |||||||||||||||||||||
| Length of CDS | 1887 | |||||||||||||||||||||
| Coding sequence (CDS) position | 866 | |||||||||||||||||||||
| cDNA position | 1112 | |||||||||||||||||||||
| gDNA position | 135113 | |||||||||||||||||||||
| Chromosomal position | 55154129 | |||||||||||||||||||||
| Speed | 0.05 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:55154129C>G (GRCh38) | |||||||||||||
| Gene symbol | EGFR | |||||||||||||
| Gene constraints | LOEUF: 0.87, LOF (oe): 0.46, misssense (oe): 0.74, synonymous (oe): 1.07 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000450046.2 | |||||||||||||
| Genbank transcript ID | NM_001346900 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.707C>G g.135113C>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 24 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||
| Altered gDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||
| Original cDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||
| Altered cDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||
| Wildtype AA sequence | MFNNCEVVLG NLEITYVQRN YDLSFLKTIQ EVAGYVLIAL NTVERIPLEN LQIIRGNMYY ENSYALAVLS NYDANKTGLK ELPMRNLQEI LHGAVRFSNN PALCNVESIQ WRDIVSSDFL SNMSMDFQNH LGSCQKCDPS CPNGSCWGAG EENCQKLTKI ICAQQCSGRC RGKSPSDCCH NQCAAGCTGP RESDCLVCRK FRDEATCKDT CPPLMLYNPT TYQMDVNPEG KYSFGATCVK KCPRNYVVTD HGSCVRACGA DSYEMEEDGV RKCKKCEGPC RKVCNGIGIG EFKDSLSINA TNIKHFKNCT SISGDLHILP VAFRGDSFTH TPPLDPQELD ILKTVKEITG FLLIQAWPEN RTDLHAFENL EIIRGRTKQH GQFSLAVVSL NITSLGLRSL KEISDGDVII SGNKNLCYAN TINWKKLFGT SGQKTKIISN RGENSCKATG QVCHALCSPE GCWGPEPRDC VSCRNVSRGR ECVDKCNLLE GEPREFVENS ECIQCHPECL PQAMNITCTG RGPDNCIQCA HYIDGPHCVK TCPAGVMGEN NTLVWKYADA GHVCHLCHPN CTYGCTGPGL EGCPTNGPKI PSIATGMVGA LLLLLVVALG IGLFMRRRHI VRKRTLRRLL QERELVEPLT PSGEAPNQAL LRILKETEFK KIKVLGSGAF GTVYKGLWIP EGEKVKIPVA IKELREATSP KANKEILDEA YVMASVDNPH VCRLLGICLT STVQLITQLM PFGCLLDYVR EHKDNIGSQY LLNWCVQIAK GMNYLEDRRL VHRDLAARNV LVKTPQHVKI TDFGLAKLLG AEEKEYHAEG GKVPIKWMAL ESILHRIYTH QSDVWSYGVT VWELMTFGSK PYDGIPASEI SSILEKGERL PQPPICTIDV YMIMVKCWMI DADSRPKFRE LIIEFSKMAR DPQRYLVIQG DERMHLPSPT DSNFYRALMD EEDMDDVVDA DEYLIPQQGF FSSPSTSRTP LLSSLSATSN NSTVACIDRN GLQSCPIKED SFLQRYSSDP TGALTEDSID DTFLPVPEYI NQSVPKRPAG SVQNPVYHNQ PLNPAPSRDP HYQDPHSTAV GNPEYLNTVQ PTCVNSTFDS PAHWAQKGSH QISLDNPDYQ QDFFPKEAKP NGIFKGSTAE NAEYLRVAPQ SSEFIGA* | |||||||||||||
| Mutated AA sequence | MFNNCEVVLG NLEITYVQRN YDLSFLKTIQ EVAGYVLIAL NTVERIPLEN LQIIRGNMYY ENSYALAVLS NYDANKTGLK ELPMRNLQEI LHGAVRFSNN PALCNVESIQ WRDIVSSDFL SNMSMDFQNH LGSCQKCDPS CPNGSCWGAG EENCQKLTKI ICAQQCSGRC RGKSPSDCCH NQCAAGCTGP RESDCLVCRK FRDEATCKDT CPPLMLYNPT TYQMDVNPEG KYSFGGTCVK KCPRNYVVTD HGSCVRACGA DSYEMEEDGV RKCKKCEGPC RKVCNGIGIG EFKDSLSINA TNIKHFKNCT SISGDLHILP VAFRGDSFTH TPPLDPQELD ILKTVKEITG FLLIQAWPEN RTDLHAFENL EIIRGRTKQH GQFSLAVVSL NITSLGLRSL KEISDGDVII SGNKNLCYAN TINWKKLFGT SGQKTKIISN RGENSCKATG QVCHALCSPE GCWGPEPRDC VSCRNVSRGR ECVDKCNLLE GEPREFVENS ECIQCHPECL PQAMNITCTG RGPDNCIQCA HYIDGPHCVK TCPAGVMGEN NTLVWKYADA GHVCHLCHPN CTYGCTGPGL EGCPTNGPKI PSIATGMVGA LLLLLVVALG IGLFMRRRHI VRKRTLRRLL QERELVEPLT PSGEAPNQAL LRILKETEFK KIKVLGSGAF GTVYKGLWIP EGEKVKIPVA IKELREATSP KANKEILDEA YVMASVDNPH VCRLLGICLT STVQLITQLM PFGCLLDYVR EHKDNIGSQY LLNWCVQIAK GMNYLEDRRL VHRDLAARNV LVKTPQHVKI TDFGLAKLLG AEEKEYHAEG GKVPIKWMAL ESILHRIYTH QSDVWSYGVT VWELMTFGSK PYDGIPASEI SSILEKGERL PQPPICTIDV YMIMVKCWMI DADSRPKFRE LIIEFSKMAR DPQRYLVIQG DERMHLPSPT DSNFYRALMD EEDMDDVVDA DEYLIPQQGF FSSPSTSRTP LLSSLSATSN NSTVACIDRN GLQSCPIKED SFLQRYSSDP TGALTEDSID DTFLPVPEYI NQSVPKRPAG SVQNPVYHNQ PLNPAPSRDP HYQDPHSTAV GNPEYLNTVQ PTCVNSTFDS PAHWAQKGSH QISLDNPDYQ QDFFPKEAKP NGIFKGSTAE NAEYLRVAPQ SSEFIGA* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3474 / 3474 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1158 / 1158 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3781 / 3781 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 308 / 308 | |||||||||||||
| Last intron/exon boundary | 3419 | |||||||||||||
| Theoretical NMD boundary in CDS | 3061 | |||||||||||||
| Length of CDS | 3474 | |||||||||||||
| Coding sequence (CDS) position | 707 | |||||||||||||
| cDNA position | 1014 | |||||||||||||
| gDNA position | 135113 | |||||||||||||
| Chromosomal position | 55154129 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:55154129C>G (GRCh38) | |||||||||||||
| Gene symbol | EGFR | |||||||||||||
| Gene constraints | LOEUF: 0.50, LOF (oe): 0.40, misssense (oe): 0.78, synonymous (oe): 1.01 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000455089.5 | |||||||||||||
| Genbank transcript ID | NM_001346898 (by similarity), NM_001346897 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.731C>G g.135113C>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 24 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||
| Altered gDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||
| Original cDNA sequence snippet | GGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTC | |||||||||||||
| Altered cDNA sequence snippet | GGGCAAATACAGCTTTGGTGGCACCTGCGTGAAGAAGTGTC | |||||||||||||
| Wildtype AA sequence | MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA VLSNYDANKT GLKELPMRNL QGQKCDPSCP NGSCWGAGEE NCQKLTKIIC AQQCSGRCRG KSPSDCCHNQ CAAGCTGPRE SDCLVCRKFR DEATCKDTCP PLMLYNPTTY QMDVNPEGKY SFGATCVKKC PRNYVVTDHG SCVRACGADS YEMEEDGVRK CKKCEGPCRK VCNGIGIGEF KDSLSINATN IKHFKNCTSI SGDLHILPVA FRGDSFTHTP PLDPQELDIL KTVKEITGFL LIQAWPENRT DLHAFENLEI IRGRTKQHGQ FSLAVVSLNI TSLGLRSLKE ISDGDVIISG NKNLCYANTI NWKKLFGTSG QKTKIISNRG ENSCKATGQV CHALCSPEGC WGPEPRDCVS CRNVSRGREC VDKCNLLEGE PREFVENSEC IQCHPECLPQ AMNITCTGRG PDNCIQCAHY IDGPHCVKTC PAGVMGENNT LVWKYADAGH VCHLCHPNCT YGCTGPGLEG CPTNGPKIPS IATGMVGALL LLLVVALGIG LFMRRRHIVR KRTLRRLLQE RELVEPLTPS GEAPNQALLR ILKETEFKKI KVLGSGAFGT VYKGLWIPEG EKVKIPVAIK ELREATSPKA NKEILDEAYV MASVDNPHVC RLLGICLTST VQLITQLMPF GCLLDYVREH KDNIGSQYLL NWCVQIAKGM NYLEDRRLVH RDLAARNVLV KTPQHVKITD FGLAKLLGAE EKEYHAEGGK VPIKWMALES ILHRIYTHQS DVWSYGVTVW ELMTFGSKPY DGIPASEISS ILEKGERLPQ PPICTIDVYM IMVKCWMIDA DSRPKFRELI IEFSKMARDP QRYLVIQGDE RMHLPSPTDS NFYRALMDEE DMDDVVDADE YLIPQQGFFS SPSTSRTPLL SSLSATSNNS TVACIDRNGL QSCPIKEDSF LQRYSSDPTG ALTEDSIDDT FLPVPGEWLV WKQSCSSTSS THSAAASLQC PSQVLPPASP EGETVADLQT Q* | |||||||||||||
| Mutated AA sequence | MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA VLSNYDANKT GLKELPMRNL QGQKCDPSCP NGSCWGAGEE NCQKLTKIIC AQQCSGRCRG KSPSDCCHNQ CAAGCTGPRE SDCLVCRKFR DEATCKDTCP PLMLYNPTTY QMDVNPEGKY SFGGTCVKKC PRNYVVTDHG SCVRACGADS YEMEEDGVRK CKKCEGPCRK VCNGIGIGEF KDSLSINATN IKHFKNCTSI SGDLHILPVA FRGDSFTHTP PLDPQELDIL KTVKEITGFL LIQAWPENRT DLHAFENLEI IRGRTKQHGQ FSLAVVSLNI TSLGLRSLKE ISDGDVIISG NKNLCYANTI NWKKLFGTSG QKTKIISNRG ENSCKATGQV CHALCSPEGC WGPEPRDCVS CRNVSRGREC VDKCNLLEGE PREFVENSEC IQCHPECLPQ AMNITCTGRG PDNCIQCAHY IDGPHCVKTC PAGVMGENNT LVWKYADAGH VCHLCHPNCT YGCTGPGLEG CPTNGPKIPS IATGMVGALL LLLVVALGIG LFMRRRHIVR KRTLRRLLQE RELVEPLTPS GEAPNQALLR ILKETEFKKI KVLGSGAFGT VYKGLWIPEG EKVKIPVAIK ELREATSPKA NKEILDEAYV MASVDNPHVC RLLGICLTST VQLITQLMPF GCLLDYVREH KDNIGSQYLL NWCVQIAKGM NYLEDRRLVH RDLAARNVLV KTPQHVKITD FGLAKLLGAE EKEYHAEGGK VPIKWMALES ILHRIYTHQS DVWSYGVTVW ELMTFGSKPY DGIPASEISS ILEKGERLPQ PPICTIDVYM IMVKCWMIDA DSRPKFRELI IEFSKMARDP QRYLVIQGDE RMHLPSPTDS NFYRALMDEE DMDDVVDADE YLIPQQGFFS SPSTSRTPLL SSLSATSNNS TVACIDRNGL QSCPIKEDSF LQRYSSDPTG ALTEDSIDDT FLPVPGEWLV WKQSCSSTSS THSAAASLQC PSQVLPPASP EGETVADLQT Q* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3276 / 3276 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1092 / 1092 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3533 / 3533 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 258 / 258 | |||||||||||||
| Last intron/exon boundary | 3284 | |||||||||||||
| Theoretical NMD boundary in CDS | 2976 | |||||||||||||
| Length of CDS | 3276 | |||||||||||||
| Coding sequence (CDS) position | 731 | |||||||||||||
| cDNA position | 988 | |||||||||||||
| gDNA position | 135113 | |||||||||||||
| Chromosomal position | 55154129 | |||||||||||||
| Speed | 0.03 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project