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: ENST00000396650
Querying Taster for transcript #2: ENST00000344300
MT speed 0.06 s - this script 2.38978 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000396650(MANE Select)	C15orf48	Benign	44\|56	3utr		No				Single base exchange		N/A	Heterozygous in gnomAD
ENST00000344300	C15orf48	Benign	44\|56	3utr		No				Single base exchange		N/A	Heterozygous in gnomAD

MutationT@ster 2025

Variant:

15:45433057C>G_1_ENST00000396650

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Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: 3utr
Tree vote: 44|56 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr15:45433057C>G (GRCh38)

Gene symbol

C15orf48

Gene constraints

LOEUF: 1.35, LOF (oe): 0.82, misssense (oe): 0.78, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000396650.7

Genbank transcript ID

NM_197955 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.366C>G
g.2479C>G

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	rs56073218
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	2	2018	2020

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.844	1
	3.747	1
(flanking)	2.351	1

?

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

15

Strand

1

Original gDNA sequence snippet

CTGAAGAGTACTCTATAAATCTAGTGGAAACATTTCTGCAC

Altered gDNA sequence snippet

CTGAAGAGTACTCTATAAATGTAGTGGAAACATTTCTGCAC

Original cDNA sequence snippet

CTGAAGAGTACTCTATAAATCTAGTGGAAACATTTCTGCAC

Altered cDNA sequence snippet

CTGAAGAGTACTCTATAAATGTAGTGGAAACATTTCTGCAC

Wildtype AA sequence

MSFFQLLMKR KELIPLVVFM TVAAGGASSF AVYSLWKTDV ILDRKKNPEP WETVDPTVPQ
KLITINQQWK PIEELQNVQR VTK*

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

74 / 74

Last intron/exon boundary

256

Theoretical NMD boundary in CDS

132

Length of CDS

252

Coding sequence (CDS) position

N/A

cDNA position

366

gDNA position

2479

Chromosomal position

45433057

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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MutationT@ster 2025

Variant:

15:45433057C>G_2_ENST00000344300

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Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: 3utr
Tree vote: 44|56 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr15:45433057C>G (GRCh38)

Gene symbol

C15orf48

Gene constraints

LOEUF: 1.35, LOF (oe): 0.82, misssense (oe): 0.78, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000344300.3

Genbank transcript ID

NM_032413 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.483C>G
g.2479C>G

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	rs56073218
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	2	2018	2020

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.844	1
	3.747	1
(flanking)	2.351	1

?

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

15

Strand

1

Original gDNA sequence snippet

CTGAAGAGTACTCTATAAATCTAGTGGAAACATTTCTGCAC

Altered gDNA sequence snippet

CTGAAGAGTACTCTATAAATGTAGTGGAAACATTTCTGCAC

Original cDNA sequence snippet

CTGAAGAGTACTCTATAAATCTAGTGGAAACATTTCTGCAC

Altered cDNA sequence snippet

CTGAAGAGTACTCTATAAATGTAGTGGAAACATTTCTGCAC

Wildtype AA sequence

MSFFQLLMKR KELIPLVVFM TVAAGGASSF AVYSLWKTDV ILDRKKNPEP WETVDPTVPQ
KLITINQQWK PIEELQNVQR VTK*

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

191 / 191

Last intron/exon boundary

373

Theoretical NMD boundary in CDS

132

Length of CDS

252

Coding sequence (CDS) position

N/A

cDNA position

483

gDNA position

2479

Chromosomal position

45433057

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