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: ENST00000431221
Querying Taster for transcript #2: ENST00000547005
Querying Taster for transcript #3: ENST00000392807
Querying Taster for transcript #4: ENST00000311893
MT speed 0.34 s - this script 2.674115 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length
ENST00000547005	ISCU	Benign	4\|96	3utr	No	Single base exchange	N/A
ENST00000311893(MANE Select)	ISCU	Benign	5\|95	3utr	No	Single base exchange	N/A
ENST00000431221	ISCU	Benign	9\|91	3utr	No	Single base exchange	N/A
ENST00000392807	ISCU	Benign	14\|86	3utr	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

12:108569028C>A_2_ENST00000547005

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Prediction:

BenignPermalink

Summary:

Model: 3utr
Tree vote: 4|96 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:108569028C>A (GRCh38)

Gene symbol

ISCU

Gene constraints

LOEUF: 1.81, LOF (oe): 1.13, misssense (oe): 1.17, synonymous (oe): 1.24 ? (gnomAD)

Ensembl transcript ID

ENST00000547005.5

Genbank transcript ID

NM_001301140 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.724C>A
g.6447C>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	4	4

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.18	0
	0.69	0
(flanking)	-0.207	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

polyA signal ok

AA sequence altered

N/A

Chromosome

12

Strand

1

Original gDNA sequence snippet

CACTGAAGAGCTATGAGATACGCACAATACTTGCTGTTCAC

Altered gDNA sequence snippet

CACTGAAGAGCTATGAGATAAGCACAATACTTGCTGTTCAC

Original cDNA sequence snippet

CACTGAAGAGCTATGAGATACGCACAATACTTGCTGTTCAC

Altered cDNA sequence snippet

CACTGAAGAGCTATGAGATAAGCACAATACTTGCTGTTCAC

Wildtype AA sequence

MAAAGAFRLR RAASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSK SVLFPAEEKT QLSP*

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

23 / 23

Last intron/exon boundary

526

Theoretical NMD boundary in CDS

453

Length of CDS

465

Coding sequence (CDS) position

N/A

cDNA position

724

gDNA position

6447

Chromosomal position

108569028

Speed

0.12 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:

12:108569028C>A_4_ENST00000311893

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Prediction:

BenignPermalink

Summary:

Model: 3utr
Tree vote: 5|95 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:108569028C>A (GRCh38)

Gene symbol

ISCU

Gene constraints

LOEUF: 1.54, LOF (oe): 0.87, misssense (oe): 1.18, synonymous (oe): 1.20 ? (gnomAD)

Ensembl transcript ID

ENST00000311893.14

Genbank transcript ID

NM_213595 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.643C>A
g.6447C>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	4	4

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.18	0
	0.69	0
(flanking)	-0.207	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

polyA signal ok

AA sequence altered

N/A

Chromosome

12

Strand

1

Original gDNA sequence snippet

CACTGAAGAGCTATGAGATACGCACAATACTTGCTGTTCAC

Altered gDNA sequence snippet

CACTGAAGAGCTATGAGATAAGCACAATACTTGCTGTTCAC

Original cDNA sequence snippet

CACTGAAGAGCTATGAGATACGCACAATACTTGCTGTTCAC

Altered cDNA sequence snippet

CACTGAAGAGCTATGAGATAAGCACAATACTTGCTGTTCAC

Wildtype AA sequence

MAAAGAFRLR RAASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSM LAEDAIKAAL ADYKLKQEPK KGEAEKK*

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

28 / 28

Last intron/exon boundary

445

Theoretical NMD boundary in CDS

367

Length of CDS

504

Coding sequence (CDS) position

N/A

cDNA position

643

gDNA position

6447

Chromosomal position

108569028

Speed

0.09 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:

12:108569028C>A_1_ENST00000431221

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: 3utr
Tree vote: 9|91 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:108569028C>A (GRCh38)

Gene symbol

ISCU

Gene constraints

LOEUF: 1.79, LOF (oe): 1.01, misssense (oe): 1.24, synonymous (oe): 1.26 ? (gnomAD)

Ensembl transcript ID

ENST00000431221.6

Genbank transcript ID

NM_001301141 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.735C>A
g.6447C>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	4	4

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.18	0
	0.69	0
(flanking)	-0.207	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

polyA signal ok

AA sequence altered

N/A

Chromosome

12

Strand

1

Original gDNA sequence snippet

CACTGAAGAGCTATGAGATACGCACAATACTTGCTGTTCAC

Altered gDNA sequence snippet

CACTGAAGAGCTATGAGATAAGCACAATACTTGCTGTTCAC

Original cDNA sequence snippet

CACTGAAGAGCTATGAGATACGCACAATACTTGCTGTTCAC

Altered cDNA sequence snippet

CACTGAAGAGCTATGAGATAAGCACAATACTTGCTGTTCAC

Wildtype AA sequence

MAAAGAFRLR RAASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSR KEGMRNISLN ASMEVY*

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

23 / 23

Last intron/exon boundary

537

Theoretical NMD boundary in CDS

464

Length of CDS

471

Coding sequence (CDS) position

N/A

cDNA position

735

gDNA position

6447

Chromosomal position

108569028

Speed

0.09 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:

12:108569028C>A_3_ENST00000392807

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: 3utr
Tree vote: 14|86 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:108569028C>A (GRCh38)

Gene symbol

ISCU

Gene constraints

LOEUF: 1.43, LOF (oe): 0.73, misssense (oe): 0.89, synonymous (oe): 0.80 ? (gnomAD)

Ensembl transcript ID

ENST00000392807.8

Genbank transcript ID

NM_014301 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.729C>A
g.6447C>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	4	4

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.18	0
	0.69	0
(flanking)	-0.207	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

polyA signal ok

AA sequence altered

N/A

Chromosome

12

Strand

1

Original gDNA sequence snippet

CACTGAAGAGCTATGAGATACGCACAATACTTGCTGTTCAC

Altered gDNA sequence snippet

CACTGAAGAGCTATGAGATAAGCACAATACTTGCTGTTCAC

Original cDNA sequence snippet

CACTGAAGAGCTATGAGATACGCACAATACTTGCTGTTCAC

Altered cDNA sequence snippet

CACTGAAGAGCTATGAGATAAGCACAATACTTGCTGTTCAC

Wildtype AA sequence

MVLIDMSVDL STQVVDHYEN PRNVGSLDKT SKNVGTGLVG APACGDVMKL QIQVDEKGKI
VDARFKTFGC GSAIASSSLA TEWVKGKTVE EALTIKNTDI AKELCLPPVK LHCSMLAEDA
IKAALADYKL KQEPKKGEAE KK*

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

189 / 189

Last intron/exon boundary

531

Theoretical NMD boundary in CDS

292

Length of CDS

429

Coding sequence (CDS) position

N/A

cDNA position

729

gDNA position

6447

Chromosomal position

108569028

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

Back to summary table