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: ENST00000371564
Querying Taster for transcript #2: ENST00000396009
Querying Taster for transcript #3: ENST00000609943
Querying Taster for transcript #4: ENST00000609507
Querying Taster for transcript #5: ENST00000414705
Querying Taster for transcript #6: ENST00000610033
MT speed 0.12 s - this script 2.495638 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000371564(MANE Select)	NFATC2	Benign	0\|200	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000396009	NFATC2	Benign	0\|200	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000609943	NFATC2	Benign	0\|200	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000609507	NFATC2	Benign	0\|200	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000414705	NFATC2	Benign	0\|200	without_aae	No	Insertion	N/A	Homozygous in gnomAD
ENST00000610033	NFATC2	Benign	0\|200	without_aae	No	Insertion	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

20:51391469A>AG_1_ENST00000371564

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr20:51391469_51391470insG (GRCh38)

Gene symbol

NFATC2

Gene constraints

LOEUF: 0.36, LOF (oe): 0.25, misssense (oe): 0.91, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000371564.8

Genbank transcript ID

NM_012340 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.*45-19_*45-18insC
g.171362_171363insC

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	rs3830840
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.275	0
(flanking)	0.018	0.001

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

19

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

20

Strand

-1

Original gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Altered gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MNAPERQPQP DGGDAPGHEP GGSPQDELDF SILFDYEYLN PNEEEPNAHK VASPPSGPAY
PDDVLDYGLK PYSPLASLSG EPPGRFGEPD RVGPQKFLSA AKPAGASGLS PRIEITPSHE
LIQAVGPLRM RDAGLLVEQP PLAGVAASPR FTLPVPGFEG YREPLCLSPA SSGSSASFIS
DTFSPYTSPC VSPNNGGPDD LCPQFQNIPA HYSPRTSPIM SPRTSLAEDS CLGRHSPVPR
PASRSSSPGA KRRHSCAEAL VALPPGASPQ RSRSPSPQPS SHVAPQDHGS PAGYPPVAGS
AVIMDALNSL ATDSPCGIPP KMWKTSPDPS PVSAAPSKAG LPRHIYPAVE FLGPCEQGER
RNSAPESILL VPPTWPKPLV PAIPICSIPV TASLPPLEWP LSSQSGSYEL RIEVQPKPHH
RAHYETEGSR GAVKAPTGGH PVVQLHGYME NKPLGLQIFI GTADERILKP HAFYQVHRIT
GKTVTTTSYE KIVGNTKVLE IPLEPKNNMR ATIDCAGILK LRNADIELRK GETDIGRKNT
RVRLVFRVHI PESSGRIVSL QTASNPIECS QRSAHELPMV ERQDTDSCLV YGGQQMILTG
QNFTSESKVV FTEKTTDGQQ IWEMEATVDK DKSQPNMLFV EIPEYRNKHI RTPVKVNFYV
INGKRKRSQP QHFTYHPVPA IKTEPTDEYD PTLICSPTHG GLGSQPYYPQ HPMVAESPSC
LVATMAPCQQ FRTGLSSPDA RYQQQNPAAV LYQRSKSLSP SLLGYQQPAL MAAPLSLADA
HRSVLVHAGS QGQSSALLHP SPTNQQASPV IHYSPTNQQL RCGSHQEFQH IMYCENFAPG
TTRPGPPPVS QGQRLSPGSY PTVIQQQNAT SQRAAKNGPP VSDQKEVLPA GVTIKQEQNL
DQTYLDDELI DTHLSWIQNI L*

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

221 / 221

Last intron/exon boundary

3030

Theoretical NMD boundary in CDS

2759

Length of CDS

2766

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

171362 / 171363

Chromosomal position

51391469 / 51391470

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:

20:51391469A>AG_2_ENST00000396009

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr20:51391469_51391470insG (GRCh38)

Gene symbol

NFATC2

Gene constraints

LOEUF: 0.35, LOF (oe): 0.24, misssense (oe): 0.91, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000396009.7

Genbank transcript ID

NM_001258297 (by similarity), NM_173091 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.2723-19_2723-18insC
g.171362_171363insC

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	rs3830840
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.275	0
(flanking)	0.018	0.001

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

19

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

20

Strand

-1

Original gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Altered gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MNAPERQPQP DGGDAPGHEP GGSPQDELDF SILFDYEYLN PNEEEPNAHK VASPPSGPAY
PDDVLDYGLK PYSPLASLSG EPPGRFGEPD RVGPQKFLSA AKPAGASGLS PRIEITPSHE
LIQAVGPLRM RDAGLLVEQP PLAGVAASPR FTLPVPGFEG YREPLCLSPA SSGSSASFIS
DTFSPYTSPC VSPNNGGPDD LCPQFQNIPA HYSPRTSPIM SPRTSLAEDS CLGRHSPVPR
PASRSSSPGA KRRHSCAEAL VALPPGASPQ RSRSPSPQPS SHVAPQDHGS PAGYPPVAGS
AVIMDALNSL ATDSPCGIPP KMWKTSPDPS PVSAAPSKAG LPRHIYPAVE FLGPCEQGER
RNSAPESILL VPPTWPKPLV PAIPICSIPV TASLPPLEWP LSSQSGSYEL RIEVQPKPHH
RAHYETEGSR GAVKAPTGGH PVVQLHGYME NKPLGLQIFI GTADERILKP HAFYQVHRIT
GKTVTTTSYE KIVGNTKVLE IPLEPKNNMR ATIDCAGILK LRNADIELRK GETDIGRKNT
RVRLVFRVHI PESSGRIVSL QTASNPIECS QRSAHELPMV ERQDTDSCLV YGGQQMILTG
QNFTSESKVV FTEKTTDGQQ IWEMEATVDK DKSQPNMLFV EIPEYRNKHI RTPVKVNFYV
INGKRKRSQP QHFTYHPVPA IKTEPTDEYD PTLICSPTHG GLGSQPYYPQ HPMVAESPSC
LVATMAPCQQ FRTGLSSPDA RYQQQNPAAV LYQRSKSLSP SLLGYQQPAL MAAPLSLADA
HRSVLVHAGS QGQSSALLHP SPTNQQASPV IHYSPTNQQL RCGSHQEFQH IMYCENFAPG
TTRPGPPPVS QGQRLSPGSY PTVIQQQNAT SQRAAKNGPP VSDQKEVLPA GVTIKQEQNL
DQTYLDDVNE IIRKEFSGPP ARNQT*

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

221 / 221

Last intron/exon boundary

2942

Theoretical NMD boundary in CDS

2671

Length of CDS

2778

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

171362 / 171363

Chromosomal position

51391469 / 51391470

Speed

0.02 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:

20:51391469A>AG_3_ENST00000609943

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr20:51391469_51391470insG (GRCh38)

Gene symbol

NFATC2

Gene constraints

LOEUF: 0.37, LOF (oe): 0.26, misssense (oe): 0.89, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000609943.5

Genbank transcript ID

NM_001258295 (by similarity), NM_001258292 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.2663-19_2663-18insC
g.171362_171363insC

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	rs3830840
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.275	0
(flanking)	0.018	0.001

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

19

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

20

Strand

-1

Original gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Altered gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MQREAAFRLG HCHPLRIMGS VDQEEPNAHK VASPPSGPAY PDDVLDYGLK PYSPLASLSG
EPPGRFGEPD RVGPQKFLSA AKPAGASGLS PRIEITPSHE LIQAVGPLRM RDAGLLVEQP
PLAGVAASPR FTLPVPGFEG YREPLCLSPA SSGSSASFIS DTFSPYTSPC VSPNNGGPDD
LCPQFQNIPA HYSPRTSPIM SPRTSLAEDS CLGRHSPVPR PASRSSSPGA KRRHSCAEAL
VALPPGASPQ RSRSPSPQPS SHVAPQDHGS PAGYPPVAGS AVIMDALNSL ATDSPCGIPP
KMWKTSPDPS PVSAAPSKAG LPRHIYPAVE FLGPCEQGER RNSAPESILL VPPTWPKPLV
PAIPICSIPV TASLPPLEWP LSSQSGSYEL RIEVQPKPHH RAHYETEGSR GAVKAPTGGH
PVVQLHGYME NKPLGLQIFI GTADERILKP HAFYQVHRIT GKTVTTTSYE KIVGNTKVLE
IPLEPKNNMR ATIDCAGILK LRNADIELRK GETDIGRKNT RVRLVFRVHI PESSGRIVSL
QTASNPIECS QRSAHELPMV ERQDTDSCLV YGGQQMILTG QNFTSESKVV FTEKTTDGQQ
IWEMEATVDK DKSQPNMLFV EIPEYRNKHI RTPVKVNFYV INGKRKRSQP QHFTYHPVPA
IKTEPTDEYD PTLICSPTHG GLGSQPYYPQ HPMVAESPSC LVATMAPCQQ FRTGLSSPDA
RYQQQNPAAV LYQRSKSLSP SLLGYQQPAL MAAPLSLADA HRSVLVHAGS QGQSSALLHP
SPTNQQASPV IHYSPTNQQL RCGSHQEFQH IMYCENFAPG TTRPGPPPVS QGQRLSPGSY
PTVIQQQNAT SQRAAKNGPP VSDQKEVLPA GVTIKQEQNL DQTYLDDVNE IIRKEFSGPP
ARNQT*

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

203 / 203

Last intron/exon boundary

2864

Theoretical NMD boundary in CDS

2611

Length of CDS

2718

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

171362 / 171363

Chromosomal position

51391469 / 51391470

Speed

0.02 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:

20:51391469A>AG_4_ENST00000609507

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr20:51391469_51391470insG (GRCh38)

Gene symbol

NFATC2

Gene constraints

LOEUF: 0.37, LOF (oe): 0.24, misssense (oe): 0.91, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000609507.1

Genbank transcript ID

NM_001258294 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.*45-19_*45-18insC
g.171362_171363insC

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	rs3830840
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.275	0
(flanking)	0.018	0.001

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

19

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

20

Strand

-1

Original gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Altered gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSPRTSLAED SCLGRHSPVP RPASRSSSPG AKRRHSCAEA LVALPPGASP QRSRSPSPQP
SSHVAPQDHG SPAGYPPVAG SAVIMDALNS LATDSPCGIP PKMWKTSPDP SPVSAAPSKA
GLPRHIYPAV EFLGPCEQGE RRNSAPESIL LVPPTWPKPL VPAIPICSIP VTASLPPLEW
PLSSQSGSYE LRIEVQPKPH HRAHYETEGS RGAVKAPTGG HPVVQLHGYM ENKPLGLQIF
IGTADERILK PHAFYQVHRI TGKTVTTTSY EKIVGNTKVL EIPLEPKNNM RATIDCAGIL
KLRNADIELR KGETDIGRKN TRVRLVFRVH IPESSGRIVS LQTASNPIEC SQRSAHELPM
VERQDTDSCL VYGGQQMILT GQNFTSESKV VFTEKTTDGQ QIWEMEATVD KDKSQPNMLF
VEIPEYRNKH IRTPVKVNFY VINGKRKRSQ PQHFTYHPVP AIKTEPTDEY DPTLICSPTH
GGLGSQPYYP QHPMVAESPS CLVATMAPCQ QFRTGLSSPD ARYQQQNPAA VLYQRSKSLS
PSLLGYQQPA LMAAPLSLAD AHRSVLVHAG SQGQSSALLH PSPTNQQASP VIHYSPTNQQ
LRCGSHQEFQ HIMYCENFAP GTTRPGPPPV SQGQRLSPGS YPTVIQQQNA TSQRAAKNGP
PVSDQKEVLP AGVTIKQEQN LDQTYLDDEL IDTHLSWIQN IL*

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

286 / 286

Last intron/exon boundary

2438

Theoretical NMD boundary in CDS

2102

Length of CDS

2109

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

171362 / 171363

Chromosomal position

51391469 / 51391470

Speed

0.02 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:

20:51391469A>AG_5_ENST00000414705

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr20:51391469_51391470insG (GRCh38)

Gene symbol

NFATC2

Gene constraints

LOEUF: 0.38, LOF (oe): 0.27, misssense (oe): 0.89, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000414705.5

Genbank transcript ID

NM_001136021 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.*45-19_*45-18insC
g.171362_171363insC

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	rs3830840
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.275	0
(flanking)	0.018	0.001

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

19

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

20

Strand

-1

Original gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Altered gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MQREAAFRLG HCHPLRIMGS VDQEEPNAHK VASPPSGPAY PDDVLDYGLK PYSPLASLSG
EPPGRFGEPD RVGPQKFLSA AKPAGASGLS PRIEITPSHE LIQAVGPLRM RDAGLLVEQP
PLAGVAASPR FTLPVPGFEG YREPLCLSPA SSGSSASFIS DTFSPYTSPC VSPNNGGPDD
LCPQFQNIPA HYSPRTSPIM SPRTSLAEDS CLGRHSPVPR PASRSSSPGA KRRHSCAEAL
VALPPGASPQ RSRSPSPQPS SHVAPQDHGS PAGYPPVAGS AVIMDALNSL ATDSPCGIPP
KMWKTSPDPS PVSAAPSKAG LPRHIYPAVE FLGPCEQGER RNSAPESILL VPPTWPKPLV
PAIPICSIPV TASLPPLEWP LSSQSGSYEL RIEVQPKPHH RAHYETEGSR GAVKAPTGGH
PVVQLHGYME NKPLGLQIFI GTADERILKP HAFYQVHRIT GKTVTTTSYE KIVGNTKVLE
IPLEPKNNMR ATIDCAGILK LRNADIELRK GETDIGRKNT RVRLVFRVHI PESSGRIVSL
QTASNPIECS QRSAHELPMV ERQDTDSCLV YGGQQMILTG QNFTSESKVV FTEKTTDGQQ
IWEMEATVDK DKSQPNMLFV EIPEYRNKHI RTPVKVNFYV INGKRKRSQP QHFTYHPVPA
IKTEPTDEYD PTLICSPTHG GLGSQPYYPQ HPMVAESPSC LVATMAPCQQ FRTGLSSPDA
RYQQQNPAAV LYQRSKSLSP SLLGYQQPAL MAAPLSLADA HRSVLVHAGS QGQSSALLHP
SPTNQQASPV IHYSPTNQQL RCGSHQEFQH IMYCENFAPG TTRPGPPPVS QGQRLSPGSY
PTVIQQQNAT SQRAAKNGPP VSDQKEVLPA GVTIKQEQNL DQTYLDDELI DTHLSWIQNI
L*

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

1 / 1

Last intron/exon boundary

2750

Theoretical NMD boundary in CDS

2699

Length of CDS

2706

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

171362 / 171363

Chromosomal position

51391469 / 51391470

Speed

0.02 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:

20:51391469A>AG_6_ENST00000610033

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr20:51391469_51391470insG (GRCh38)

Gene symbol

NFATC2

Gene constraints

LOEUF: 0.37, LOF (oe): 0.24, misssense (oe): 0.91, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000610033.5

Genbank transcript ID

NM_001258296 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.*45-19_*45-18insC
g.171362_171363insC

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	rs3830840
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.275	0
(flanking)	0.018	0.001

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

19

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

20

Strand

-1

Original gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Altered gDNA sequence snippet

CCATTCTCTCTCCCCCCCCCCTCCTCTTTTCTTTTGTAGTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSPRTSLAED SCLGRHSPVP RPASRSSSPG AKRRHSCAEA LVALPPGASP QRSRSPSPQP
SSHVAPQDHG SPAGYPPVAG SAVIMDALNS LATDSPCGIP PKMWKTSPDP SPVSAAPSKA
GLPRHIYPAV EFLGPCEQGE RRNSAPESIL LVPPTWPKPL VPAIPICSIP VTASLPPLEW
PLSSQSGSYE LRIEVQPKPH HRAHYETEGS RGAVKAPTGG HPVVQLHGYM ENKPLGLQIF
IGTADERILK PHAFYQVHRI TGKTVTTTSY EKIVGNTKVL EIPLEPKNNM RATIDCAGIL
KLRNADIELR KGETDIGRKN TRVRLVFRVH IPESSGRIVS LQTASNPIEC SQRSAHELPM
VERQDTDSCL VYGGQQMILT GQNFTSESKV VFTEKTTDGQ QIWEMEATVD KDKSQPNMLF
VEIPEYRNKH IRTPVKVNFY VINGKRKRSQ PQHFTYHPVP AIKTEPTDEY DPTLICSPTH
GGLGSQPYYP QHPMVAESPS CLVATMAPCQ QFRTGLSSPD ARYQQQNPAA VLYQRSKSLS
PSLLGYQQPA LMAAPLSLAD AHRSVLVHAG SQGQSSALLH PSPTNQQASP VIHYSPTNQQ
LRCGSHQEFQ HIMYCENFAP GTTRPGPPPV SQGQRLSPGS YPTVIQQQNA TSQRAAKNGP
PVSDQKEVLP AGVTIKQEQN LDQTYLDDEL IDTHLSWIQN IL*

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

364 / 364

Last intron/exon boundary

2516

Theoretical NMD boundary in CDS

2102

Length of CDS

2109

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

171362 / 171363

Chromosomal position

51391469 / 51391470

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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