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: ENST00000314128
Querying Taster for transcript #2: ENST00000698186
Querying Taster for transcript #3: ENST00000651915
Querying Taster for transcript #4: ENST00000698193
Querying Taster for transcript #5: ENST00000557235
MT speed 0.22 s - this script 2.648722 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000698193	STAT2	Benign	0\|100	3utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000698186	STAT2	Benign	7\|93	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000314128(MANE Select)	STAT2	Benign	28\|72	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000557235	STAT2	Benign	28\|72	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000651915	STAT2	Benign	29\|71	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD

MutationT@ster 2025

Variant:

12:56343472C>A_4_ENST00000698193

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 3utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr12:56343472C>A (GRCh38)

Gene symbol

STAT2

Gene constraints

no data

Ensembl transcript ID

ENST00000698193.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.2919G>T
g.16732G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs61754170
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	366	28918	29284

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.629	0
	-0.53	0
(flanking)	0.019	0.005

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

polyA signal ok

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

ATGGTGACCCACTGTTGGCTGGCCAGAACACCGTGGATGAG

Altered gDNA sequence snippet

ATGGTGACCCACTGTTGGCTTGCCAGAACACCGTGGATGAG

Original cDNA sequence snippet

ATGGTGACCCACTGTTGGCTGGCCAGAACACCGTGGATGAG

Altered cDNA sequence snippet

ATGGTGACCCACTGTTGGCTTGCCAGAACACCGTGGATGAG

Wildtype AA sequence

MAQWEMLQNL DSPFQDQLHQ LYSHSLLPVD IRQYLAVWIE DQNWQEAALG SDDSKATMLF
FHFLDQLNYE CGRCSQDPES LLLQHNLRKF CRDIQPFSQD PTQLAEMIFN LLLEEKRILI
QAQRAQLEQG EPVLETPVES QQHEIESRIL DLRAMMEKLV KSISQLKDQQ DVFCFRYKIQ
AKGKTPSLDP HQTKEQKILQ ETLNELDKRR KEVLDASKAL LGRLTTLIEL LLPKLEEWKA
QQQKACIRAP IDHGLEQLET WFTAGAKLLF HLRQLLKELK GLSCLVSYQD DPLTKGVDLR
NAQVTELLQR LLHRAFVVET QPCMPQTPHR PLILKTGSKF TVRTRLLVRL QEGNESLTVE
VSIDRNPPQL QGFRKFNILT SNQKTLTPEK GQSQGLIWDF GYLTLVEQRS GGSGKGSNKG
PLGVTEELHI ISFTVKYTYQ GLKQELKTDT LPVVIISNMN QLSIAWASVL WFNLLSPNLQ
NQQFFSNPPK APWSLLGPAL SWQFSSYVGR GLNSDQLSML RNKLFGQNCR TEDPLLSWAD
FTKRESPPGK LPFWTWLDKI LELVHDHLKD LWNDGRIMGF VSRSQERRLL KKTMSGTFLL
RFSESSEGGI TCSWVEHQDD DKVLIYSVQP YTKEVLQSLP LTEIIRHYQL LTEENIPENP
LRFLYPRIPR DEAFGCYYQE KVNLQERRKY LKHRLIVVSN RQVDELQQPL ELKPEPELES
LELELGLVPE PELSLDLEPL LKAGLDLGPE LESVLESTLE PVIEPTLCMV SQTVPEPDQG
PVSQPVPEPD LPCDLRHLNT EPMESK*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

154 / 154

Last intron/exon boundary

2255

Theoretical NMD boundary in CDS

2051

Length of CDS

2421

Coding sequence (CDS) position

N/A

cDNA position

2919

gDNA position

16732

Chromosomal position

56343472

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

Back to summary table

MutationT@ster 2025

Variant:

12:56343472C>A_2_ENST00000698186

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 7|93 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr12:56343472C>A (GRCh38)

Gene symbol

STAT2

Gene constraints

no data

Ensembl transcript ID

ENST00000698186.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2341G>T
g.16732G>T

AA changes

AAE:	G781C	?
Score:	159

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs61754170
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	366	28918	29284

Protein conservation

Species	Match	AA	Alignment
Human		781	E	I	M	P	N	G	D	P	L	L	A	G	Q	N	T	V	D	E	V	Y	V	S	R	P
mutated	not conserved	781												C	Q	N	T	V	D	E	V	Y	V	S	R
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.629	0
	-0.53	0
(flanking)	0.019	0.005

?

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

Yes

Chromosome

12

Strand

-1

Original gDNA sequence snippet

ATGGTGACCCACTGTTGGCTGGCCAGAACACCGTGGATGAG

Altered gDNA sequence snippet

ATGGTGACCCACTGTTGGCTTGCCAGAACACCGTGGATGAG

Original cDNA sequence snippet

ATGGTGACCCACTGTTGGCTGGCCAGAACACCGTGGATGAG

Altered cDNA sequence snippet

ATGGTGACCCACTGTTGGCTTGCCAGAACACCGTGGATGAG

Wildtype AA sequence

MAQWEMLQNL DSPFQDQLHQ LYSHSLLPVD IRQYLAVWIE DQNWQEAALG SDDSKATMLF
FHFLDQLNYE CGRCSQDPES LLLQHNLRKF CRDIQPFSQD PTQLAEMIFN LLLEEKRILI
QAQRAQLEQG EPVLETPVES QQHEIESRIL DLRAMMEKLV KSISQLKDQQ DVFCFRYKIQ
AKGKTPSLDP HQTKEQKILQ ETLNELDKRR KEVLDASKAL LGRLTTLIEL LLPKLEEWKA
QQQKACIRAP IDHGLEQLET WFTAGAKLLF HLRQLLKELK GLSCLVSYQD DPLTKGVDLR
NAQVTELLQR LLHRAFVVET QPCMPQTPHR PLILKTGSKF TVRTRLLVRL QEGNESLTVE
VSIDRNPPQL QGFRKFNILT SNQKTLTPEK GQSQGLIWDF GYLTDTLPVV IISNMNQLSI
AWASVLWFNL LSPNLQNQQF FSNPPKAPWS LLGPALSWQF SSYVGRGLNS DQLSMLRNKL
FGQNCRTEDP LLSWADFTKR ESPPGKLPFW TWLDKILELV HDHLKDLWND GRIMGFVSRS
QERRLLKKTM SGTFLLRFSE SSEGGITCSW VEHQDDDKVL IYSVQPYTKE VLQSLPLTEI
IRHYQLLTEE NIPENPLRFL YPRIPRDEAF GCYYQEKVNL QERRKYLKHR LIVVSNRQVD
ELQQPLELKP EPELESLELE LGLVPEPELS LDLEPLLKAG LDLGPELESV LESTLEPVIE
PTLCMVSQTV PEPDQGPVSQ PVPEPDLPCD LRHLNTEPME IFRNCVKIEE IMPNGDPLLA
GQNTVDEVYV SRPSHFYTDG PLMPSDF*

Mutated AA sequence

MAQWEMLQNL DSPFQDQLHQ LYSHSLLPVD IRQYLAVWIE DQNWQEAALG SDDSKATMLF
FHFLDQLNYE CGRCSQDPES LLLQHNLRKF CRDIQPFSQD PTQLAEMIFN LLLEEKRILI
QAQRAQLEQG EPVLETPVES QQHEIESRIL DLRAMMEKLV KSISQLKDQQ DVFCFRYKIQ
AKGKTPSLDP HQTKEQKILQ ETLNELDKRR KEVLDASKAL LGRLTTLIEL LLPKLEEWKA
QQQKACIRAP IDHGLEQLET WFTAGAKLLF HLRQLLKELK GLSCLVSYQD DPLTKGVDLR
NAQVTELLQR LLHRAFVVET QPCMPQTPHR PLILKTGSKF TVRTRLLVRL QEGNESLTVE
VSIDRNPPQL QGFRKFNILT SNQKTLTPEK GQSQGLIWDF GYLTDTLPVV IISNMNQLSI
AWASVLWFNL LSPNLQNQQF FSNPPKAPWS LLGPALSWQF SSYVGRGLNS DQLSMLRNKL
FGQNCRTEDP LLSWADFTKR ESPPGKLPFW TWLDKILELV HDHLKDLWND GRIMGFVSRS
QERRLLKKTM SGTFLLRFSE SSEGGITCSW VEHQDDDKVL IYSVQPYTKE VLQSLPLTEI
IRHYQLLTEE NIPENPLRFL YPRIPRDEAF GCYYQEKVNL QERRKYLKHR LIVVSNRQVD
ELQQPLELKP EPELESLELE LGLVPEPELS LDLEPLLKAG LDLGPELESV LESTLEPVIE
PTLCMVSQTV PEPDQGPVSQ PVPEPDLPCD LRHLNTEPME IFRNCVKIEE IMPNGDPLLA
CQNTVDEVYV SRPSHFYTDG PLMPSDF*

Position of stopcodon in wt / mu CDS

2424 / 2424

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

808 / 808

Position of stopcodon in wt / mu cDNA

2577 / 2577

Position of start ATG in wt / mu cDNA

154 / 154

Last intron/exon boundary

2434

Theoretical NMD boundary in CDS

2230

Length of CDS

2424

Coding sequence (CDS) position

2341

cDNA position

2494

gDNA position

16732

Chromosomal position

56343472

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

Back to summary table

MutationT@ster 2025

Variant:

12:56343472C>A_1_ENST00000314128

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 28|72 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr12:56343472C>A (GRCh38)

Gene symbol

STAT2

Gene constraints

LOEUF: 0.50, LOF (oe): 0.39, misssense (oe): 0.69, synonymous (oe): 0.84 ? (gnomAD)

Ensembl transcript ID

ENST00000314128.9

Genbank transcript ID

NM_005419 (exact from MANE), NM_001385114 (by similarity), NM_001385113 (by similarity)

UniProt / AlphaMissense peptide

STAT2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2473G>T
g.16732G>T

AA changes

AAE:	G825C	?
Score:	159

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs61754170
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	366	28918	29284

Protein conservation

Species	Match	AA	Alignment
Human		825	E	I	M	P	N	G	D	P	L	L	A	G	Q	N	T	V	D	E	V	Y	V	S	R	P
mutated	not conserved	825	E	I	M	P	N	G	D	P	L	L	A	C	Q	N	T	V	D	E	V	Y	V	S	R
Ptroglodytes	all identical	825	E	I	M	P	N	G	D	P	L	L	A	G	Q	N	T	V	D	E	V	Y	V	S	R
Mmulatta	all identical	825	E	I	M	P	N	G	D	P	L	L	A	G	Q	N	T	V	D	E	A	Y	V	S	R
Fcatus	all identical	827	E	I	M	P	N	G	D	P	L	L	A	G	Q	N	T	V	D	E	A	Y	V	F	H
Mmusculus	all identical	875	Y	I	T	T	N	E	N	P	M	L	A	G	E	S
Ggallus	no alignment	n/a
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no alignment	n/a
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	851	CHAIN		lost
824	827	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.629	0
	-0.53	0
(flanking)	0.019	0.005

?

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

Yes

Chromosome

12

Strand

-1

Original gDNA sequence snippet

ATGGTGACCCACTGTTGGCTGGCCAGAACACCGTGGATGAG

Altered gDNA sequence snippet

ATGGTGACCCACTGTTGGCTTGCCAGAACACCGTGGATGAG

Original cDNA sequence snippet

ATGGTGACCCACTGTTGGCTGGCCAGAACACCGTGGATGAG

Altered cDNA sequence snippet

ATGGTGACCCACTGTTGGCTTGCCAGAACACCGTGGATGAG

Wildtype AA sequence

MAQWEMLQNL DSPFQDQLHQ LYSHSLLPVD IRQYLAVWIE DQNWQEAALG SDDSKATMLF
FHFLDQLNYE CGRCSQDPES LLLQHNLRKF CRDIQPFSQD PTQLAEMIFN LLLEEKRILI
QAQRAQLEQG EPVLETPVES QQHEIESRIL DLRAMMEKLV KSISQLKDQQ DVFCFRYKIQ
AKGKTPSLDP HQTKEQKILQ ETLNELDKRR KEVLDASKAL LGRLTTLIEL LLPKLEEWKA
QQQKACIRAP IDHGLEQLET WFTAGAKLLF HLRQLLKELK GLSCLVSYQD DPLTKGVDLR
NAQVTELLQR LLHRAFVVET QPCMPQTPHR PLILKTGSKF TVRTRLLVRL QEGNESLTVE
VSIDRNPPQL QGFRKFNILT SNQKTLTPEK GQSQGLIWDF GYLTLVEQRS GGSGKGSNKG
PLGVTEELHI ISFTVKYTYQ GLKQELKTDT LPVVIISNMN QLSIAWASVL WFNLLSPNLQ
NQQFFSNPPK APWSLLGPAL SWQFSSYVGR GLNSDQLSML RNKLFGQNCR TEDPLLSWAD
FTKRESPPGK LPFWTWLDKI LELVHDHLKD LWNDGRIMGF VSRSQERRLL KKTMSGTFLL
RFSESSEGGI TCSWVEHQDD DKVLIYSVQP YTKEVLQSLP LTEIIRHYQL LTEENIPENP
LRFLYPRIPR DEAFGCYYQE KVNLQERRKY LKHRLIVVSN RQVDELQQPL ELKPEPELES
LELELGLVPE PELSLDLEPL LKAGLDLGPE LESVLESTLE PVIEPTLCMV SQTVPEPDQG
PVSQPVPEPD LPCDLRHLNT EPMEIFRNCV KIEEIMPNGD PLLAGQNTVD EVYVSRPSHF
YTDGPLMPSD F*

Mutated AA sequence

MAQWEMLQNL DSPFQDQLHQ LYSHSLLPVD IRQYLAVWIE DQNWQEAALG SDDSKATMLF
FHFLDQLNYE CGRCSQDPES LLLQHNLRKF CRDIQPFSQD PTQLAEMIFN LLLEEKRILI
QAQRAQLEQG EPVLETPVES QQHEIESRIL DLRAMMEKLV KSISQLKDQQ DVFCFRYKIQ
AKGKTPSLDP HQTKEQKILQ ETLNELDKRR KEVLDASKAL LGRLTTLIEL LLPKLEEWKA
QQQKACIRAP IDHGLEQLET WFTAGAKLLF HLRQLLKELK GLSCLVSYQD DPLTKGVDLR
NAQVTELLQR LLHRAFVVET QPCMPQTPHR PLILKTGSKF TVRTRLLVRL QEGNESLTVE
VSIDRNPPQL QGFRKFNILT SNQKTLTPEK GQSQGLIWDF GYLTLVEQRS GGSGKGSNKG
PLGVTEELHI ISFTVKYTYQ GLKQELKTDT LPVVIISNMN QLSIAWASVL WFNLLSPNLQ
NQQFFSNPPK APWSLLGPAL SWQFSSYVGR GLNSDQLSML RNKLFGQNCR TEDPLLSWAD
FTKRESPPGK LPFWTWLDKI LELVHDHLKD LWNDGRIMGF VSRSQERRLL KKTMSGTFLL
RFSESSEGGI TCSWVEHQDD DKVLIYSVQP YTKEVLQSLP LTEIIRHYQL LTEENIPENP
LRFLYPRIPR DEAFGCYYQE KVNLQERRKY LKHRLIVVSN RQVDELQQPL ELKPEPELES
LELELGLVPE PELSLDLEPL LKAGLDLGPE LESVLESTLE PVIEPTLCMV SQTVPEPDQG
PVSQPVPEPD LPCDLRHLNT EPMEIFRNCV KIEEIMPNGD PLLACQNTVD EVYVSRPSHF
YTDGPLMPSD F*

Position of stopcodon in wt / mu CDS

2556 / 2556

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

852 / 852

Position of stopcodon in wt / mu cDNA

2613 / 2613

Position of start ATG in wt / mu cDNA

58 / 58

Last intron/exon boundary

2470

Theoretical NMD boundary in CDS

2362

Length of CDS

2556

Coding sequence (CDS) position

2473

cDNA position

2530

gDNA position

16732

Chromosomal position

56343472

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

Back to summary table

MutationT@ster 2025

Variant:

12:56343472C>A_5_ENST00000557235

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 28|72 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr12:56343472C>A (GRCh38)

Gene symbol

STAT2

Gene constraints

LOEUF: 0.50, LOF (oe): 0.39, misssense (oe): 0.69, synonymous (oe): 0.84 ? (gnomAD)

Ensembl transcript ID

ENST00000557235.5

Genbank transcript ID

NM_001385110 (by similarity), NM_001385115 (by similarity), NM_198332 (by similarity)

UniProt / AlphaMissense peptide

STAT2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2461G>T
g.16732G>T

AA changes

AAE:	G821C	?
Score:	159

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs61754170
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	366	28918	29284

Protein conservation

Species	Match	AA	Alignment
Human		821	E	I	M	P	N	G	D	P	L	L	A	G	Q	N	T	V	D	E	V	Y	V	S	R	P
mutated	not conserved	821	E	I	M	P	N	G	D	P	L	L	A	C	Q	N	T	V	D	E	V	Y	V	S	R
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	851	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.629	0
	-0.53	0
(flanking)	0.019	0.005

?

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

Yes

Chromosome

12

Strand

-1

Original gDNA sequence snippet

ATGGTGACCCACTGTTGGCTGGCCAGAACACCGTGGATGAG

Altered gDNA sequence snippet

ATGGTGACCCACTGTTGGCTTGCCAGAACACCGTGGATGAG

Original cDNA sequence snippet

ATGGTGACCCACTGTTGGCTGGCCAGAACACCGTGGATGAG

Altered cDNA sequence snippet

ATGGTGACCCACTGTTGGCTTGCCAGAACACCGTGGATGAG

Wildtype AA sequence

MAQWEMLQNL DSPFQDQLHQ LYSHSLLPVD IRQYLAVWIE DQNWQEAALG SDDSKATMLF
FHFLDQLNYE CGRCSQDPES LLLQHNLRKF CRDIQDPTQL AEMIFNLLLE EKRILIQAQR
AQLEQGEPVL ETPVESQQHE IESRILDLRA MMEKLVKSIS QLKDQQDVFC FRYKIQAKGK
TPSLDPHQTK EQKILQETLN ELDKRRKEVL DASKALLGRL TTLIELLLPK LEEWKAQQQK
ACIRAPIDHG LEQLETWFTA GAKLLFHLRQ LLKELKGLSC LVSYQDDPLT KGVDLRNAQV
TELLQRLLHR AFVVETQPCM PQTPHRPLIL KTGSKFTVRT RLLVRLQEGN ESLTVEVSID
RNPPQLQGFR KFNILTSNQK TLTPEKGQSQ GLIWDFGYLT LVEQRSGGSG KGSNKGPLGV
TEELHIISFT VKYTYQGLKQ ELKTDTLPVV IISNMNQLSI AWASVLWFNL LSPNLQNQQF
FSNPPKAPWS LLGPALSWQF SSYVGRGLNS DQLSMLRNKL FGQNCRTEDP LLSWADFTKR
ESPPGKLPFW TWLDKILELV HDHLKDLWND GRIMGFVSRS QERRLLKKTM SGTFLLRFSE
SSEGGITCSW VEHQDDDKVL IYSVQPYTKE VLQSLPLTEI IRHYQLLTEE NIPENPLRFL
YPRIPRDEAF GCYYQEKVNL QERRKYLKHR LIVVSNRQVD ELQQPLELKP EPELESLELE
LGLVPEPELS LDLEPLLKAG LDLGPELESV LESTLEPVIE PTLCMVSQTV PEPDQGPVSQ
PVPEPDLPCD LRHLNTEPME IFRNCVKIEE IMPNGDPLLA GQNTVDEVYV SRPSHFYTDG
PLMPSDF*

Mutated AA sequence

MAQWEMLQNL DSPFQDQLHQ LYSHSLLPVD IRQYLAVWIE DQNWQEAALG SDDSKATMLF
FHFLDQLNYE CGRCSQDPES LLLQHNLRKF CRDIQDPTQL AEMIFNLLLE EKRILIQAQR
AQLEQGEPVL ETPVESQQHE IESRILDLRA MMEKLVKSIS QLKDQQDVFC FRYKIQAKGK
TPSLDPHQTK EQKILQETLN ELDKRRKEVL DASKALLGRL TTLIELLLPK LEEWKAQQQK
ACIRAPIDHG LEQLETWFTA GAKLLFHLRQ LLKELKGLSC LVSYQDDPLT KGVDLRNAQV
TELLQRLLHR AFVVETQPCM PQTPHRPLIL KTGSKFTVRT RLLVRLQEGN ESLTVEVSID
RNPPQLQGFR KFNILTSNQK TLTPEKGQSQ GLIWDFGYLT LVEQRSGGSG KGSNKGPLGV
TEELHIISFT VKYTYQGLKQ ELKTDTLPVV IISNMNQLSI AWASVLWFNL LSPNLQNQQF
FSNPPKAPWS LLGPALSWQF SSYVGRGLNS DQLSMLRNKL FGQNCRTEDP LLSWADFTKR
ESPPGKLPFW TWLDKILELV HDHLKDLWND GRIMGFVSRS QERRLLKKTM SGTFLLRFSE
SSEGGITCSW VEHQDDDKVL IYSVQPYTKE VLQSLPLTEI IRHYQLLTEE NIPENPLRFL
YPRIPRDEAF GCYYQEKVNL QERRKYLKHR LIVVSNRQVD ELQQPLELKP EPELESLELE
LGLVPEPELS LDLEPLLKAG LDLGPELESV LESTLEPVIE PTLCMVSQTV PEPDQGPVSQ
PVPEPDLPCD LRHLNTEPME IFRNCVKIEE IMPNGDPLLA CQNTVDEVYV SRPSHFYTDG
PLMPSDF*

Position of stopcodon in wt / mu CDS

2544 / 2544

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

848 / 848

Position of stopcodon in wt / mu cDNA

2620 / 2620

Position of start ATG in wt / mu cDNA

77 / 77

Last intron/exon boundary

2477

Theoretical NMD boundary in CDS

2350

Length of CDS

2544

Coding sequence (CDS) position

2461

cDNA position

2537

gDNA position

16732

Chromosomal position

56343472

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

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MutationT@ster 2025

Variant:

12:56343472C>A_3_ENST00000651915

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 29|71 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr12:56343472C>A (GRCh38)

Gene symbol

STAT2

Gene constraints

LOEUF: 0.52, LOF (oe): 0.41, misssense (oe): 0.69, synonymous (oe): 0.83 ? (gnomAD)

Ensembl transcript ID

ENST00000651915.1

Genbank transcript ID

NM_001385111 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2374G>T
g.16732G>T

AA changes

AAE:	G792C	?
Score:	159

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs61754170
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	366	28918	29284

Protein conservation

Species	Match	AA	Alignment
Human		792	E	I	M	P	N	G	D	P	L	L	A	G	Q	N	T	V	D	E	V	Y	V	S	R	P
mutated	not conserved	792	E	I	M	P	N	G	D	P	L	L	A	C	Q	N	T	V	D	E	V	Y	V	S	R
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.629	0
	-0.53	0
(flanking)	0.019	0.005

?

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

Yes

Chromosome

12

Strand

-1

Original gDNA sequence snippet

ATGGTGACCCACTGTTGGCTGGCCAGAACACCGTGGATGAG

Altered gDNA sequence snippet

ATGGTGACCCACTGTTGGCTTGCCAGAACACCGTGGATGAG

Original cDNA sequence snippet

ATGGTGACCCACTGTTGGCTGGCCAGAACACCGTGGATGAG

Altered cDNA sequence snippet

ATGGTGACCCACTGTTGGCTTGCCAGAACACCGTGGATGAG

Wildtype AA sequence

MAQWEMLQNL DSPFQDQLHQ LYSHSLLPVD IRQYLAVWIE DQNWQEAALG SDDSKATMLF
FHFLDQLNYE CGRCSQDPES LLLQHNLRKF CRDIQPFSQD PTQLAEMIFN LLLEEKRILI
QAQRAQLEQG EPVLETPVES QQHEIESRIL DLRAMMEKLV KSISQLKDQQ DVFCFRYKIQ
AKGKTPSLDP HQTKEQKILQ ETLNELDKRR KEVLDASKAL LGRLTTLIEL LLPKLEEWKA
QQQKACIRAP IDHGLEQLET WFTAGAKLLF HLRQLLKELK GLSCLVSYQD DPLTKGVDLR
NAQVTELLQR LLHRAFVVET QPCMPQTPHR PLILKTGSKF TVRTRLLVRL QEGNESLTVE
VSIDRNPPQL QGFRKFNILT SNQKTLTPEK GQSQGLIWDF GYLTLVEQRS GGSGKGSNKG
PLGVTEELHI ISFTVKYTYQ GLKQELKNQQ FFSNPPKAPW SLLGPALSWQ FSSYVGRGLN
SDQLSMLRNK LFGQNCRTED PLLSWADFTK RESPPGKLPF WTWLDKILEL VHDHLKDLWN
DGRIMGFVSR SQERRLLKKT MSGTFLLRFS ESSEGGITCS WVEHQDDDKV LIYSVQPYTK
EVLQSLPLTE IIRHYQLLTE ENIPENPLRF LYPRIPRDEA FGCYYQEKVN LQERRKYLKH
RLIVVSNRQV DELQQPLELK PEPELESLEL ELGLVPEPEL SLDLEPLLKA GLDLGPELES
VLESTLEPVI EPTLCMVSQT VPEPDQGPVS QPVPEPDLPC DLRHLNTEPM EIFRNCVKIE
EIMPNGDPLL AGQNTVDEVY VSRPSHFYTD GPLMPSDF*

Mutated AA sequence

MAQWEMLQNL DSPFQDQLHQ LYSHSLLPVD IRQYLAVWIE DQNWQEAALG SDDSKATMLF
FHFLDQLNYE CGRCSQDPES LLLQHNLRKF CRDIQPFSQD PTQLAEMIFN LLLEEKRILI
QAQRAQLEQG EPVLETPVES QQHEIESRIL DLRAMMEKLV KSISQLKDQQ DVFCFRYKIQ
AKGKTPSLDP HQTKEQKILQ ETLNELDKRR KEVLDASKAL LGRLTTLIEL LLPKLEEWKA
QQQKACIRAP IDHGLEQLET WFTAGAKLLF HLRQLLKELK GLSCLVSYQD DPLTKGVDLR
NAQVTELLQR LLHRAFVVET QPCMPQTPHR PLILKTGSKF TVRTRLLVRL QEGNESLTVE
VSIDRNPPQL QGFRKFNILT SNQKTLTPEK GQSQGLIWDF GYLTLVEQRS GGSGKGSNKG
PLGVTEELHI ISFTVKYTYQ GLKQELKNQQ FFSNPPKAPW SLLGPALSWQ FSSYVGRGLN
SDQLSMLRNK LFGQNCRTED PLLSWADFTK RESPPGKLPF WTWLDKILEL VHDHLKDLWN
DGRIMGFVSR SQERRLLKKT MSGTFLLRFS ESSEGGITCS WVEHQDDDKV LIYSVQPYTK
EVLQSLPLTE IIRHYQLLTE ENIPENPLRF LYPRIPRDEA FGCYYQEKVN LQERRKYLKH
RLIVVSNRQV DELQQPLELK PEPELESLEL ELGLVPEPEL SLDLEPLLKA GLDLGPELES
VLESTLEPVI EPTLCMVSQT VPEPDQGPVS QPVPEPDLPC DLRHLNTEPM EIFRNCVKIE
EIMPNGDPLL ACQNTVDEVY VSRPSHFYTD GPLMPSDF*

Position of stopcodon in wt / mu CDS

2457 / 2457

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

819 / 819

Position of stopcodon in wt / mu cDNA

2538 / 2538

Position of start ATG in wt / mu cDNA

82 / 82

Last intron/exon boundary

2395

Theoretical NMD boundary in CDS

2263

Length of CDS

2457

Coding sequence (CDS) position

2374

cDNA position

2455

gDNA position

16732

Chromosomal position

56343472

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

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