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: ENST00000437342
Querying Taster for transcript #2: ENST00000368112
Querying Taster for transcript #3: ENST00000368110
Querying Taster for transcript #4: ENST00000368111
Querying Taster for transcript #5: ENST00000255030
MT speed 0.08 s - this script 2.444504 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000368112	CRP	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000368111	CRP	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000368110	CRP	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000255030(MANE Select)	CRP	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000437342	CRP	Benign	1\|199	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

1:159714396T>A_2_ENST00000368112

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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

Chr1:159714396T>A (GRCh38)

Gene symbol

CRP

Gene constraints

LOEUF: 1.91, LOF (oe): 1.46, misssense (oe): 0.98, synonymous (oe): 1.11 ? (gnomAD)

Ensembl transcript ID

ENST00000368112.5

Genbank transcript ID

NM_001329058 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.61+29A>T
g.194A>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	rs1417938
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.202	0
	-0.603	0
(flanking)	0.436	0

?

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

N/A

AA sequence altered

N/A

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CACCCCAGGCTATGGGAGAGATTTGATCTGAGGTATGGGGG

Altered gDNA sequence snippet

CACCCCAGGCTATGGGAGAGTTTTGATCTGAGGTATGGGGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEKLLCFLVL TSLSHAFGQT DMSRKAFVFP KESDTSYVSL KAPLTKPLKA FTVCLHFYTE
LSSTRGPNVL NWRALKYEVQ GEVFTKPQLW P*

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

105 / 105

Last intron/exon boundary

402

Theoretical NMD boundary in CDS

247

Length of CDS

276

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

194

Chromosomal position

159714396

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:

1:159714396T>A_4_ENST00000368111

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

Chr1:159714396T>A (GRCh38)

Gene symbol

CRP

Gene constraints

LOEUF: 1.96, LOF (oe): 1.80, misssense (oe): 1.01, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000368111.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.61+29A>T
g.194A>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	rs1417938
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.202	0
	-0.603	0
(flanking)	0.436	0

?

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

N/A

AA sequence altered

N/A

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CACCCCAGGCTATGGGAGAGATTTGATCTGAGGTATGGGGG

Altered gDNA sequence snippet

CACCCCAGGCTATGGGAGAGTTTTGATCTGAGGTATGGGGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEKLLCFLVL TSLSHAFGQT DMSRKAFVFP KESDTSYVSL KAPLTKPLKA FTVCLHFYTE
LSSTHEINTI YLGGPFSPNV LNWRALKYEV QGEVFTKPQL WP*

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

105 / 105

Last intron/exon boundary

435

Theoretical NMD boundary in CDS

280

Length of CDS

309

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

194

Chromosomal position

159714396

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:

1:159714396T>A_3_ENST00000368110

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

Chr1:159714396T>A (GRCh38)

Gene symbol

CRP

Gene constraints

LOEUF: 1.92, LOF (oe): 1.50, misssense (oe): 1.01, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000368110.1

Genbank transcript ID

NM_001382703 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.61+29A>T
g.194A>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	rs1417938
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.202	0
	-0.603	0
(flanking)	0.436	0

?

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

N/A

AA sequence altered

N/A

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CACCCCAGGCTATGGGAGAGATTTGATCTGAGGTATGGGGG

Altered gDNA sequence snippet

CACCCCAGGCTATGGGAGAGTTTTGATCTGAGGTATGGGGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEKLLCFLVL TSLSHAFGQT DMSRKAFVFP KESDTSYVSL KAPLTKPLKA FTVCLHFYTE
LSSTHEINTI YLGGPFSPNV LNWRALKYEV QGEVFTKPQL WP*

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

105 / 105

Last intron/exon boundary

435

Theoretical NMD boundary in CDS

280

Length of CDS

309

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

194

Chromosomal position

159714396

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:

1:159714396T>A_5_ENST00000255030

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

Chr1:159714396T>A (GRCh38)

Gene symbol

CRP

Gene constraints

LOEUF: 1.93, LOF (oe): 1.50, misssense (oe): 1.05, synonymous (oe): 1.11 ? (gnomAD)

Ensembl transcript ID

ENST00000255030.9

Genbank transcript ID

NM_000567 (exact from MANE), NM_001329057 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.61+29A>T
g.194A>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	rs1417938
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.202	0
	-0.603	0
(flanking)	0.436	0

?

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

N/A

AA sequence altered

N/A

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CACCCCAGGCTATGGGAGAGATTTGATCTGAGGTATGGGGG

Altered gDNA sequence snippet

CACCCCAGGCTATGGGAGAGTTTTGATCTGAGGTATGGGGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEKLLCFLVL TSLSHAFGQT DMSRKAFVFP KESDTSYVSL KAPLTKPLKA FTVCLHFYTE
LSSTRGYSIF SYATKRQDNE ILIFWSKDIG YSFTVGGSEI LFEVPEVTVA PVHICTSWES
ASGIVEFWVD GKPRVRKSLK KGYTVGAEAS IILGQEQDSF GGNFEGSQSL VGDIGNVNMW
DFVLSPDEIN TIYLGGPFSP NVLNWRALKY EVQGEVFTKP QLWP*

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

105 / 105

Last intron/exon boundary

165

Theoretical NMD boundary in CDS

10

Length of CDS

675

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

194

Chromosomal position

159714396

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:

1:159714396T>A_1_ENST00000437342

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 1|199 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr1:159714396T>A (GRCh38)

Gene symbol

CRP

Gene constraints

LOEUF: 1.59, LOF (oe): 0.66, misssense (oe): 1.00, synonymous (oe): 1.26 ? (gnomAD)

Ensembl transcript ID

ENST00000437342.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-308+103A>T
g.194A>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	rs1417938
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.202	0
	-0.603	0
(flanking)	0.436	0

?

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

N/A

AA sequence altered

N/A

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CACCCCAGGCTATGGGAGAGATTTGATCTGAGGTATGGGGG

Altered gDNA sequence snippet

CACCCCAGGCTATGGGAGAGTTTTGATCTGAGGTATGGGGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MWDFVLSPDE INTIYLGGPF SPNVLNWRAL KYEVQGEVFT KPQLWP*

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

399 / 399

Last intron/exon boundary

561

Theoretical NMD boundary in CDS

112

Length of CDS

141

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

194

Chromosomal position

159714396

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