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: ENST00000615513
Querying Taster for transcript #2: ENST00000448526
MT speed 0.06 s - this script 2.439829 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
ENST00000615513	CDKN1A	Benign	8\|192	without_aae		No				Single base exchange		N/A	Homozygous in gnomAD
ENST00000448526	CDKN1A	Benign	8\|192	without_aae		No				Single base exchange		N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

6:36678211G>C_1_ENST00000615513

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 8|192 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:36678211G>C (GRCh38)

Gene symbol

CDKN1A

Gene constraints

LOEUF: 1.49, LOF (oe): 0.96, misssense (oe): 0.85, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000615513.4

Genbank transcript ID

NM_001374510 (by similarity), NM_001220777 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-6+1687G>C
g.1752G>C

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	rs4151702
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	7018	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.59	0.064
	2.088	0.071
(flanking)	-1.094	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

6

Strand

1

Original gDNA sequence snippet

GTGAGGGATCAGTGGGAATAGAGGTGATATTGTGGGGCTTT

Altered gDNA sequence snippet

GTGAGGGATCAGTGGGAATACAGGTGATATTGTGGGGCTTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSEPAGDVRQ NPCGSKACRR LFGPVDSEQL SRDCDALMAG CIQEARERWN FDFVTETPLE
GDFAWERVRG LGLPKLYLPT GPRRGRDELG GGRRPGTSPA LLQGTAEEDH VDLSLSCTLV
PRSGEQAEGS PGGPGDSQGR KRRQTSMTDF YHSKRRLIFS KRKP*

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

71 / 71

Last intron/exon boundary

515

Theoretical NMD boundary in CDS

394

Length of CDS

495

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1752

Chromosomal position

36678211

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:

6:36678211G>C_2_ENST00000448526

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 8|192 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:36678211G>C (GRCh38)

Gene symbol

CDKN1A

Gene constraints

LOEUF: 1.49, LOF (oe): 0.96, misssense (oe): 0.85, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000448526.6

Genbank transcript ID

NM_001291549 (by similarity), NM_001374509 (by similarity), NM_078467 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-6+278G>C
g.1752G>C

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	rs4151702
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	7018	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.59	0.064
	2.088	0.071
(flanking)	-1.094	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

6

Strand

1

Original gDNA sequence snippet

GTGAGGGATCAGTGGGAATAGAGGTGATATTGTGGGGCTTT

Altered gDNA sequence snippet

GTGAGGGATCAGTGGGAATACAGGTGATATTGTGGGGCTTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSEPAGDVRQ NPCGSKACRR LFGPVDSEQL SRDCDALMAG CIQEARERWN FDFVTETPLE
GDFAWERVRG LGLPKLYLPT GPRRGRDELG GGRRPGTSPA LLQGTAEEDH VDLSLSCTLV
PRSGEQAEGS PGGPGDSQGR KRRQTSMTDF YHSKRRLIFS KRKP*

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

73 / 73

Last intron/exon boundary

517

Theoretical NMD boundary in CDS

394

Length of CDS

495

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1752

Chromosomal position

36678211

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