MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000676678
Querying Taster for transcript #2: ENST00000403184
Querying Taster for transcript #3: ENST00000361682
Querying Taster for transcript #4: ENST00000403710
Querying Taster for transcript #5: ENST00000407537
Querying Taster for transcript #6: ENST00000678868
Querying Taster for transcript #7: ENST00000678769
Querying Taster for transcript #8: ENST00000428707
Querying Taster for transcript #9: ENST00000406520
Querying Taster for transcript #10: ENST00000678255
Querying Taster for transcript #11: ENST00000449653
MT speed 0.11 s - this script 2.529768 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000428707	COMT	Benign	77\|123	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000449653	COMT	Benign	79\|121	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000676678	COMT	Benign	88\|112	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000361682(MANE Select)	COMT	Benign	88\|112	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000403710	COMT	Benign	88\|112	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000407537	COMT	Benign	88\|112	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000678868	COMT	Benign	88\|112	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000678769	COMT	Benign	88\|112	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000406520	COMT	Benign	88\|112	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000678255	COMT	Benign	88\|112	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000403184	COMT	Benign	93\|107	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD

MutationT@ster 2025

Variant:

22:19962712C>T_8_ENST00000428707

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 77|123 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr22:19962712C>T (GRCh38)

Gene symbol

COMT

Gene constraints

LOEUF: 1.05, LOF (oe): 0.65, misssense (oe): 0.89, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000428707.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.186C>T
g.21342C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4633
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.492	0.001
	-1.826	0
(flanking)	7.22	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

22

Strand

1

Original gDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered gDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Original cDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered cDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Wildtype AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEVQWSG VFQSADVFCI PDDQIGLLSP LAQPEKSRSP
GPSLMHSLAQ TGRQPPCSRP RPLSSSRVAL CSTSFQLTLL GHFFFFLNEN TS*

Mutated AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEVQWSG VFQSADVFCI PDDQIGLLSP LAQPEKSRSP
GPSLMHSLAQ TGRQPPCSRP RPLSSSRVAL CSTSFQLTLL GHFFFFLNEN TS*

Position of stopcodon in wt / mu CDS

879 / 879

Position (AA) of stopcodon in wt / mu AA sequence

293 / 293

Position of stopcodon in wt / mu cDNA

997 / 997

Position of start ATG in wt / mu cDNA

119 / 119

Last intron/exon boundary

733

Theoretical NMD boundary in CDS

564

Length of CDS

879

Coding sequence (CDS) position

186

cDNA position

304

gDNA position

21342

Chromosomal position

19962712

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

22:19962712C>T_11_ENST00000449653

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 79|121 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr22:19962712C>T (GRCh38)

Gene symbol

COMT

Gene constraints

LOEUF: 1.20, LOF (oe): 0.73, misssense (oe): 0.86, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000449653.5

Genbank transcript ID

NM_007310 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.36C>T
g.21342C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4633
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.492	0.001
	-1.826	0
(flanking)	7.22	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

22

Strand

1

Original gDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered gDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Original cDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered cDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Wildtype AA sequence

MGDTKEQRIL NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS
VLLELGAYCG YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ
DIIPQLKKKY DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL
AHVRGSSCFE CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Mutated AA sequence

MGDTKEQRIL NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS
VLLELGAYCG YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ
DIIPQLKKKY DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL
AHVRGSSCFE CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Position of stopcodon in wt / mu CDS

666 / 666

Position (AA) of stopcodon in wt / mu AA sequence

222 / 222

Position of stopcodon in wt / mu cDNA

773 / 773

Position of start ATG in wt / mu cDNA

108 / 108

Last intron/exon boundary

572

Theoretical NMD boundary in CDS

414

Length of CDS

666

Coding sequence (CDS) position

36

cDNA position

143

gDNA position

21342

Chromosomal position

19962712

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

22:19962712C>T_1_ENST00000676678

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 88|112 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr22:19962712C>T (GRCh38)

Gene symbol

COMT

Gene constraints

LOEUF: 1.13, LOF (oe): 0.71, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000676678.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.186C>T
g.21342C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4633
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.492	0.001
	-1.826	0
(flanking)	7.22	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

22

Strand

1

Original gDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered gDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Original cDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered cDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Wildtype AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Mutated AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Position of stopcodon in wt / mu CDS

816 / 816

Position (AA) of stopcodon in wt / mu AA sequence

272 / 272

Position of stopcodon in wt / mu cDNA

1112 / 1112

Position of start ATG in wt / mu cDNA

297 / 297

Last intron/exon boundary

911

Theoretical NMD boundary in CDS

564

Length of CDS

816

Coding sequence (CDS) position

186

cDNA position

482

gDNA position

21342

Chromosomal position

19962712

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

22:19962712C>T_3_ENST00000361682

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 88|112 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr22:19962712C>T (GRCh38)

Gene symbol

COMT

Gene constraints

LOEUF: 1.13, LOF (oe): 0.71, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000361682.11

Genbank transcript ID

NM_000754 (exact from MANE), NM_001362828 (by similarity), NM_001135161 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.186C>T
g.21342C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4633
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.492	0.001
	-1.826	0
(flanking)	7.22	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

22

Strand

1

Original gDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered gDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Original cDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered cDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Wildtype AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Mutated AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Position of stopcodon in wt / mu CDS

816 / 816

Position (AA) of stopcodon in wt / mu AA sequence

272 / 272

Position of stopcodon in wt / mu cDNA

1033 / 1033

Position of start ATG in wt / mu cDNA

218 / 218

Last intron/exon boundary

832

Theoretical NMD boundary in CDS

564

Length of CDS

816

Coding sequence (CDS) position

186

cDNA position

403

gDNA position

21342

Chromosomal position

19962712

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

22:19962712C>T_4_ENST00000403710

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 88|112 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr22:19962712C>T (GRCh38)

Gene symbol

COMT

Gene constraints

LOEUF: 1.13, LOF (oe): 0.71, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000403710.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.186C>T
g.21342C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4633
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.492	0.001
	-1.826	0
(flanking)	7.22	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

22

Strand

1

Original gDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered gDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Original cDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered cDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Wildtype AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Mutated AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Position of stopcodon in wt / mu CDS

816 / 816

Position (AA) of stopcodon in wt / mu AA sequence

272 / 272

Position of stopcodon in wt / mu cDNA

1326 / 1326

Position of start ATG in wt / mu cDNA

511 / 511

Last intron/exon boundary

1125

Theoretical NMD boundary in CDS

564

Length of CDS

816

Coding sequence (CDS) position

186

cDNA position

696

gDNA position

21342

Chromosomal position

19962712

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

22:19962712C>T_5_ENST00000407537

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 88|112 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr22:19962712C>T (GRCh38)

Gene symbol

COMT

Gene constraints

LOEUF: 1.13, LOF (oe): 0.71, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000407537.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.186C>T
g.21342C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4633
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.492	0.001
	-1.826	0
(flanking)	7.22	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

22

Strand

1

Original gDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered gDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Original cDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered cDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Wildtype AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Mutated AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Position of stopcodon in wt / mu CDS

816 / 816

Position (AA) of stopcodon in wt / mu AA sequence

272 / 272

Position of stopcodon in wt / mu cDNA

1195 / 1195

Position of start ATG in wt / mu cDNA

380 / 380

Last intron/exon boundary

994

Theoretical NMD boundary in CDS

564

Length of CDS

816

Coding sequence (CDS) position

186

cDNA position

565

gDNA position

21342

Chromosomal position

19962712

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

22:19962712C>T_6_ENST00000678868

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 88|112 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr22:19962712C>T (GRCh38)

Gene symbol

COMT

Gene constraints

LOEUF: 1.13, LOF (oe): 0.71, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000678868.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.186C>T
g.21342C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4633
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.492	0.001
	-1.826	0
(flanking)	7.22	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

22

Strand

1

Original gDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered gDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Original cDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered cDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Wildtype AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Mutated AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Position of stopcodon in wt / mu CDS

816 / 816

Position (AA) of stopcodon in wt / mu AA sequence

272 / 272

Position of stopcodon in wt / mu cDNA

1186 / 1186

Position of start ATG in wt / mu cDNA

371 / 371

Last intron/exon boundary

985

Theoretical NMD boundary in CDS

564

Length of CDS

816

Coding sequence (CDS) position

186

cDNA position

556

gDNA position

21342

Chromosomal position

19962712

Speed

0.01 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

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MutationT@ster 2025

Variant:

22:19962712C>T_7_ENST00000678769

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 88|112 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr22:19962712C>T (GRCh38)

Gene symbol

COMT

Gene constraints

LOEUF: 1.10, LOF (oe): 0.71, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000678769.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.186C>T
g.21342C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4633
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.492	0.001
	-1.826	0
(flanking)	7.22	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

22

Strand

1

Original gDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered gDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Original cDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered cDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Wildtype AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEKWGLP MLPRLVSNSW PQAILLPQPP KVLGVQECGL
LRKGTVLLAD NVICPGAPDF LAHVRGSSCF ECTHYQSFLE YREVVDGLEK AIYKGPGSEA
GP*

Mutated AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEKWGLP MLPRLVSNSW PQAILLPQPP KVLGVQECGL
LRKGTVLLAD NVICPGAPDF LAHVRGSSCF ECTHYQSFLE YREVVDGLEK AIYKGPGSEA
GP*

Position of stopcodon in wt / mu CDS

909 / 909

Position (AA) of stopcodon in wt / mu AA sequence

303 / 303

Position of stopcodon in wt / mu cDNA

1064 / 1064

Position of start ATG in wt / mu cDNA

156 / 156

Last intron/exon boundary

863

Theoretical NMD boundary in CDS

657

Length of CDS

909

Coding sequence (CDS) position

186

cDNA position

341

gDNA position

21342

Chromosomal position

19962712

Speed

0.01 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

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MutationT@ster 2025

Variant:

22:19962712C>T_9_ENST00000406520

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 88|112 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr22:19962712C>T (GRCh38)

Gene symbol

COMT

Gene constraints

LOEUF: 1.13, LOF (oe): 0.71, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000406520.7

Genbank transcript ID

NM_001135162 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.186C>T
g.21342C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4633
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.492	0.001
	-1.826	0
(flanking)	7.22	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

22

Strand

1

Original gDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered gDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Original cDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered cDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Wildtype AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Mutated AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Position of stopcodon in wt / mu CDS

816 / 816

Position (AA) of stopcodon in wt / mu AA sequence

272 / 272

Position of stopcodon in wt / mu cDNA

1059 / 1059

Position of start ATG in wt / mu cDNA

244 / 244

Last intron/exon boundary

858

Theoretical NMD boundary in CDS

564

Length of CDS

816

Coding sequence (CDS) position

186

cDNA position

429

gDNA position

21342

Chromosomal position

19962712

Speed

0.01 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

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MutationT@ster 2025

Variant:

22:19962712C>T_10_ENST00000678255

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 88|112 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr22:19962712C>T (GRCh38)

Gene symbol

COMT

Gene constraints

LOEUF: 1.13, LOF (oe): 0.71, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000678255.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.186C>T
g.21342C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4633
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.492	0.001
	-1.826	0
(flanking)	7.22	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

22

Strand

1

Original gDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered gDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Original cDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered cDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Wildtype AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Mutated AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Position of stopcodon in wt / mu CDS

816 / 816

Position (AA) of stopcodon in wt / mu AA sequence

272 / 272

Position of stopcodon in wt / mu cDNA

1900 / 1900

Position of start ATG in wt / mu cDNA

1085 / 1085

Last intron/exon boundary

1699

Theoretical NMD boundary in CDS

564

Length of CDS

816

Coding sequence (CDS) position

186

cDNA position

1270

gDNA position

21342

Chromosomal position

19962712

Speed

0.01 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

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MutationT@ster 2025

Variant:

22:19962712C>T_2_ENST00000403184

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 93|107 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr22:19962712C>T (GRCh38)

Gene symbol

COMT

Gene constraints

LOEUF: 1.13, LOF (oe): 0.65, misssense (oe): 0.90, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000403184.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.186C>T
g.21342C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4633
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.492	0.001
	-1.826	0
(flanking)	7.22	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

22

Strand

1

Original gDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered gDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Original cDNA sequence snippet

GAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCC

Altered cDNA sequence snippet

GAGCAGCGCATCCTGAACCATGTGCTGCAGCATGCGGAGCC

Wildtype AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEVSPNQ DGIRASCCPE PIQSASASPK SQAFQ*

Mutated AA sequence

MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
DVDTLDMVFL DHWKDRYLPD TLLLEVSPNQ DGIRASCCPE PIQSASASPK SQAFQ*

Position of stopcodon in wt / mu CDS

708 / 708

Position (AA) of stopcodon in wt / mu AA sequence

236 / 236

Position of stopcodon in wt / mu cDNA

964 / 964

Position of start ATG in wt / mu cDNA

257 / 257

Last intron/exon boundary

739

Theoretical NMD boundary in CDS

432

Length of CDS

708

Coding sequence (CDS) position

186

cDNA position

442

gDNA position

21342

Chromosomal position

19962712

Speed

0.01 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

Back to summary table