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: ENST00000295297
Querying Taster for transcript #2: ENST00000429690
Querying Taster for transcript #3: ENST00000444304
MT speed 0.06 s - this script 2.407551 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
ENST00000295297	C1QTNF7	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000429690	C1QTNF7	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000444304(MANE Select)	C1QTNF7	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

4:15437227C>T_1_ENST00000295297

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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

Chr4:15437227C>T (GRCh38)

Gene symbol

C1QTNF7

Gene constraints

LOEUF: 1.16, LOF (oe): 0.79, misssense (oe): 0.86, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000295297.4

Genbank transcript ID

NM_001135170 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.259+1246C>T
g.97410C>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	rs1029973
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	982	13660	14642

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.152	0
	-0.193	0
(flanking)	0.77	0.002

?

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

4

Strand

1

Original gDNA sequence snippet

TAATGTAGTGGCTATACAAACAAACATTGGAGTCAGAAAGA

Altered gDNA sequence snippet

TAATGTAGTGGCTATACAAATAAACATTGGAGTCAGAAAGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSRQEPKMFV LLYVTSFAIC ASGQPRGNQL KGENYSPRYI CSIPGLPGPP GPPGANGSPG
PHGRIGLPGR DGRDGRKGEK GEKGTAGLRG KTGPLGLAGE KGDQGETGKK GPIGPEGEKG
EVGPIGPPGP KGDRGEQGDP GLPGVCRCGS IVLKSAFSVG ITTSYPEERL PIIFNKVLFN
EGEHYNPATG KFICAFPGIY YFSYDITLAN KHLAIGLVHN GQYRIKTFDA NTGNHDVASG
STVIYLQPED EVWLEIFFTD QNGLFSDPGW ADSLFSGFLL YVDTDYLDSI SEDDEL*

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

260 / 260

Last intron/exon boundary

518

Theoretical NMD boundary in CDS

208

Length of CDS

891

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

97410

Chromosomal position

15437227

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

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MutationT@ster 2025

Variant:

4:15437227C>T_2_ENST00000429690

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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

Chr4:15437227C>T (GRCh38)

Gene symbol

C1QTNF7

Gene constraints

LOEUF: 1.12, LOF (oe): 0.73, misssense (oe): 0.85, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000429690.5

Genbank transcript ID

NM_001135171 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.238+1246C>T
g.97410C>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	rs1029973
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	982	13660	14642

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.152	0
	-0.193	0
(flanking)	0.77	0.002

?

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

4

Strand

1

Original gDNA sequence snippet

TAATGTAGTGGCTATACAAACAAACATTGGAGTCAGAAAGA

Altered gDNA sequence snippet

TAATGTAGTGGCTATACAAATAAACATTGGAGTCAGAAAGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFVLLYVTSF AICASGQPRG NQLKGENYSP RYICSIPGLP GPPGPPGANG SPGPHGRIGL
PGRDGRDGRK GEKGEKGTAG LRGKTGPLGL AGEKGDQGET GKKGPIGPEG EKGEVGPIGP
PGPKGDRGEQ GDPGLPGVCR CGSIVLKSAF SVGITTSYPE ERLPIIFNKV LFNEGEHYNP
ATGKFICAFP GIYYFSYDIT LANKHLAIGL VHNGQYRIKT FDANTGNHDV ASGSTVIYLQ
PEDEVWLEIF FTDQNGLFSD PGWADSLFSG FLLYVDTDYL DSISEDDEL*

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

228 / 228

Last intron/exon boundary

465

Theoretical NMD boundary in CDS

187

Length of CDS

870

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

97410

Chromosomal position

15437227

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

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MutationT@ster 2025

Variant:

4:15437227C>T_3_ENST00000444304

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

Chr4:15437227C>T (GRCh38)

Gene symbol

C1QTNF7

Gene constraints

LOEUF: 1.12, LOF (oe): 0.73, misssense (oe): 0.85, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000444304.3

Genbank transcript ID

NM_031911 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.238+1246C>T
g.97410C>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	rs1029973
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	982	13660	14642

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.152	0
	-0.193	0
(flanking)	0.77	0.002

?

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

4

Strand

1

Original gDNA sequence snippet

TAATGTAGTGGCTATACAAACAAACATTGGAGTCAGAAAGA

Altered gDNA sequence snippet

TAATGTAGTGGCTATACAAATAAACATTGGAGTCAGAAAGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFVLLYVTSF AICASGQPRG NQLKGENYSP RYICSIPGLP GPPGPPGANG SPGPHGRIGL
PGRDGRDGRK GEKGEKGTAG LRGKTGPLGL AGEKGDQGET GKKGPIGPEG EKGEVGPIGP
PGPKGDRGEQ GDPGLPGVCR CGSIVLKSAF SVGITTSYPE ERLPIIFNKV LFNEGEHYNP
ATGKFICAFP GIYYFSYDIT LANKHLAIGL VHNGQYRIKT FDANTGNHDV ASGSTVIYLQ
PEDEVWLEIF FTDQNGLFSD PGWADSLFSG FLLYVDTDYL DSISEDDEL*

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

83 / 83

Last intron/exon boundary

320

Theoretical NMD boundary in CDS

187

Length of CDS

870

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

97410

Chromosomal position

15437227

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