MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000370689
Querying Taster for transcript #2: ENST00000610457
Querying Taster for transcript #3: ENST00000394839
Querying Taster for transcript #4: ENST00000614872
Querying Taster for transcript #5: ENST00000370680
Querying Taster for transcript #6: ENST00000610703
Querying Taster for transcript #7: ENST00000446538
Querying Taster for transcript #8: ENST00000436133
Querying Taster for transcript #9: ENST00000370685
Querying Taster for transcript #10: ENST00000370688
MT speed 0.28 s - this script 2.713555 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000370689	PRKACB	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000610457	PRKACB	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000394839	PRKACB	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000614872	PRKACB	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000370680	PRKACB	Benign	0\|100	3utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000610703	PRKACB	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000446538	PRKACB	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000436133	PRKACB	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000370685(MANE Select)	PRKACB	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000370688	PRKACB	Benign	0\|100	3utr	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

1:84205133A>C_1_ENST00000370689

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

Chr1:84205133A>C (GRCh38)

Gene symbol

PRKACB

Gene constraints

LOEUF: 0.53, LOF (oe): 0.32, misssense (oe): 0.63, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000370689.6

Genbank transcript ID

NM_002731 (by similarity), NM_001375565 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.765+2328A>C
g.127072A>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	rs1057738
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.658	0.041
	0.608	0.024
(flanking)	-0.195	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

1

Strand

1

Original gDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered gDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGNAATAKKG SEVESVKEFL AKAKEDFLKK WENPTQNNAG LEDFERKKTL GTGSFGRVML
VKHKATEQYY AMKILDKQKV VKLKQIEHTL NEKRILQAVN FPFLVRLEYA FKDNSNLYMV
MEYVPGGEMF SHLRRIGRFS EPHARFYAAQ IVLTFEYLHS LDLIYRDLKP ENLLIDHQGY
IQVTDFGFAK RVKGRTWTLC GTPEYLAPEI ILSKGYNKAV DWWALGVLIY EMAAGYPPFF
ADQPIQIYEK IVSGKVRFPS HFSSDLKDLL RNLLQVDLTK RFGNLKNGVS DIKTHKWFAT
TDWIAIYQRK VEAPFIPKFR GSGDTSNFDD YEEEDIRVSI TEKCAKEFGE F*

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

265 / 265

Last intron/exon boundary

1194

Theoretical NMD boundary in CDS

879

Length of CDS

1056

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

127072

Chromosomal position

84205133

Speed

0.03 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:

1:84205133A>C_2_ENST00000610457

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

Chr1:84205133A>C (GRCh38)

Gene symbol

PRKACB

Gene constraints

LOEUF: 0.41, LOF (oe): 0.21, misssense (oe): 0.61, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000610457.2

Genbank transcript ID

NM_001242862 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.726+2328A>C
g.127072A>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	rs1057738
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.658	0.041
	0.608	0.024
(flanking)	-0.195	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

1

Strand

1

Original gDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered gDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MLLLSSSISL YKDRNEARLI SSQNNAGLED FERKKTLGTG SFGRVMLVKH KATEQYYAMK
ILDKQKVVKL KQIEHTLNEK RILQAVNFPF LVRLEYAFKD NSNLYMVMEY VPGGEMFSHL
RRIGRFSEPH ARFYAAQIVL TFEYLHSLDL IYRDLKPENL LIDHQGYIQV TDFGFAKRVK
GRTWTLCGTP EYLAPEIILS KGYNKAVDWW ALGVLIYEMA AGYPPFFADQ PIQIYEKIVS
GKVRFPSHFS SDLKDLLRNL LQVDLTKRFG NLKNGVSDIK THKWFATTDW IAIYQRKVEA
PFIPKFRGSG DTSNFDDYEE EDIRVSITEK CAKEFGEF*

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

101 / 101

Last intron/exon boundary

991

Theoretical NMD boundary in CDS

840

Length of CDS

1017

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

127072

Chromosomal position

84205133

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:

1:84205133A>C_3_ENST00000394839

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

Chr1:84205133A>C (GRCh38)

Gene symbol

PRKACB

Gene constraints

LOEUF: 0.53, LOF (oe): 0.30, misssense (oe): 0.64, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000394839.6

Genbank transcript ID

NM_001242861 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.675+2328A>C
g.127072A>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	rs1057738
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.658	0.041
	0.608	0.024
(flanking)	-0.195	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

1

Strand

1

Original gDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered gDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSARKSSDAS ACSSSEISVK EFLAKAKEDF LKKWENPTQN NAGLEDFERK KTLGTGSFGR
VMLVKHKATE QYYAMKILDK QKDNSNLYMV MEYVPGGEMF SHLRRIGRFS EPHARFYAAQ
IVLTFEYLHS LDLIYRDLKP ENLLIDHQGY IQVTDFGFAK RVKGRTWTLC GTPEYLAPEI
ILSKGYNKAV DWWALGVLIY EMAAGYPPFF ADQPIQIYEK IVSGKVRFPS HFSSDLKDLL
RNLLQVDLTK RFGNLKNGVS DIKTHKWFAT TDWIAIYQRK VEAPFIPKFR GSGDTSNFDD
YEEEDIRVSI TEKCAKEFGE F*

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

42 / 42

Last intron/exon boundary

881

Theoretical NMD boundary in CDS

789

Length of CDS

966

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

127072

Chromosomal position

84205133

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:

1:84205133A>C_4_ENST00000614872

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

Chr1:84205133A>C (GRCh38)

Gene symbol

PRKACB

Gene constraints

LOEUF: 0.55, LOF (oe): 0.33, misssense (oe): 0.64, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000614872.4

Genbank transcript ID

NM_001242860 (by similarity), NM_001375560 (by similarity), NM_001375561 (by similarity), NM_001375564 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.783+2328A>C
g.127072A>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	rs1057738
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.658	0.041
	0.608	0.024
(flanking)	-0.195	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

1

Strand

1

Original gDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered gDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSARKSSDAS ACSSSEISDS FVKEFLAKAK EDFLKKWENP TQNNAGLEDF ERKKTLGTGS
FGRVMLVKHK ATEQYYAMKI LDKQKVVKLK QIEHTLNEKR ILQAVNFPFL VRLEYAFKDN
SNLYMVMEYV PGGEMFSHLR RIGRFSEPHA RFYAAQIVLT FEYLHSLDLI YRDLKPENLL
IDHQGYIQVT DFGFAKRVKG RTWTLCGTPE YLAPEIILSK GYNKAVDWWA LGVLIYEMAA
GYPPFFADQP IQIYEKIVSG KVRFPSHFSS DLKDLLRNLL QVDLTKRFGN LKNGVSDIKT
HKWFATTDWI AIYQRKVEAP FIPKFRGSGD TSNFDDYEEE DIRVSITEKC AKEFGEF*

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

42 / 42

Last intron/exon boundary

989

Theoretical NMD boundary in CDS

897

Length of CDS

1074

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

127072

Chromosomal position

84205133

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:

1:84205133A>C_5_ENST00000370680

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 3utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr1:84205133A>C (GRCh38)

Gene symbol

PRKACB

Gene constraints

LOEUF: 0.72, LOF (oe): 0.43, misssense (oe): 0.59, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000370680.5

Genbank transcript ID

NM_001375581 (by similarity), NM_001375569 (by similarity), NM_001300915 (by similarity), NM_001375571 (by similarity), NM_001375573 (by similarity), NM_001375575 (by similarity), NM_001375574 (by similarity), NM_001375577 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1750A>C
g.127072A>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	rs1057738
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.658	0.041
	0.608	0.024
(flanking)	-0.195	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

polyA signal ok

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered gDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Original cDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered cDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Wildtype AA sequence

MSARKSSDAS ACSSSEISDS FVKEFLAKAK EDFLKKWENP TQNNAGLEDF ERKKTLGTGS
FGRVMLVKHK ATEQYYAMKI LDKQKVVKLK QIEHTLNEKR ILQAVNFPFL VRLEYAFKDN
SNLYMVMEYV PGGEMFSHLR RIGRFSEPHA RFYAAQIVLT FEYLHSLDLI YRDLKPENLL
IDHQGYIQVT DFGFAKRVKG RTWTLCGTPE YLAPEIILSK GYNKAVDWWA LGVLIYEMAA
GYPPFFADQP IQIYEKIVSG KQNF*

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

313 / 313

Last intron/exon boundary

1095

Theoretical NMD boundary in CDS

732

Length of CDS

795

Coding sequence (CDS) position

N/A

cDNA position

1750

gDNA position

127072

Chromosomal position

84205133

Speed

0.07 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:

1:84205133A>C_6_ENST00000610703

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

Chr1:84205133A>C (GRCh38)

Gene symbol

PRKACB

Gene constraints

LOEUF: 0.51, LOF (oe): 0.30, misssense (oe): 0.62, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000610703.4

Genbank transcript ID

NM_001242858 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.729+2328A>C
g.127072A>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	rs1057738
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.658	0.041
	0.608	0.024
(flanking)	-0.195	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

1

Strand

1

Original gDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered gDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGLLKEFLAK AKEDFLKKWE NPTQNNAGLE DFERKKTLGT GSFGRVMLVK HKATEQYYAM
KILDKQKVVK LKQIEHTLNE KRILQAVNFP FLVRLEYAFK DNSNLYMVME YVPGGEMFSH
LRRIGRFSEP HARFYAAQIV LTFEYLHSLD LIYRDLKPEN LLIDHQGYIQ VTDFGFAKRV
KGRTWTLCGT PEYLAPEIIL SKGYNKAVDW WALGVLIYEM AAGYPPFFAD QPIQIYEKIV
SGKVRFPSHF SSDLKDLLRN LLQVDLTKRF GNLKNGVSDI KTHKWFATTD WIAIYQRKVE
APFIPKFRGS GDTSNFDDYE EEDIRVSITE KCAKEFGEF*

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

32 / 32

Last intron/exon boundary

925

Theoretical NMD boundary in CDS

843

Length of CDS

1020

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

127072

Chromosomal position

84205133

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:

1:84205133A>C_7_ENST00000446538

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

Chr1:84205133A>C (GRCh38)

Gene symbol

PRKACB

Gene constraints

LOEUF: 0.57, LOF (oe): 0.35, misssense (oe): 0.64, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000446538.5

Genbank transcript ID

NM_001242857 (by similarity), NM_001375562 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.786+2328A>C
g.127072A>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	rs1057738
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.658	0.041
	0.608	0.024
(flanking)	-0.195	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

1

Strand

1

Original gDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered gDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGLSRKSSDA SACSSSEISD SFVKEFLAKA KEDFLKKWEN PTQNNAGLED FERKKTLGTG
SFGRVMLVKH KATEQYYAMK ILDKQKVVKL KQIEHTLNEK RILQAVNFPF LVRLEYAFKD
NSNLYMVMEY VPGGEMFSHL RRIGRFSEPH ARFYAAQIVL TFEYLHSLDL IYRDLKPENL
LIDHQGYIQV TDFGFAKRVK GRTWTLCGTP EYLAPEIILS KGYNKAVDWW ALGVLIYEMA
AGYPPFFADQ PIQIYEKIVS GKVRFPSHFS SDLKDLLRNL LQVDLTKRFG NLKNGVSDIK
THKWFATTDW IAIYQRKVEA PFIPKFRGSG DTSNFDDYEE EDIRVSITEK CAKEFGEF*

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

32 / 32

Last intron/exon boundary

982

Theoretical NMD boundary in CDS

900

Length of CDS

1077

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

127072

Chromosomal position

84205133

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:

1:84205133A>C_8_ENST00000436133

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

Chr1:84205133A>C (GRCh38)

Gene symbol

PRKACB

Gene constraints

LOEUF: 1.00, LOF (oe): 0.59, misssense (oe): 0.67, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000436133.6

Genbank transcript ID

NM_001242859 (by similarity), NM_001375563 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.777+2328A>C
g.127072A>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	rs1057738
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.658	0.041
	0.608	0.024
(flanking)	-0.195	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

1

Strand

1

Original gDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered gDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGLSRKSSDA SACSSSEISV KEFLAKAKED FLKKWENPTQ NNAGLEDFER KKTLGTGSFG
RVMLVKHKAT EQYYAMKILD KQKVVKLKQI EHTLNEKRIL QAVNFPFLVR LEYAFKDNSN
LYMVMEYVPG GEMFSHLRRI GRFSEPHARF YAAQIVLTFE YLHSLDLIYR DLKPENLLID
HQGYIQVTDF GFAKRVKGRT WTLCGTPEYL APEIILSKGY NKAVDWWALG VLIYEMAAGY
PPFFADQPIQ IYEKIVSGKV RFPSHFSSDL KDLLRNLLQV DLTKRFGNLK NGVSDIKTHK
WFATTDWIAI YQRKVEAPFI PKFRGSGDTS NFDDYEEEDI RVSITEKCAK EFGEF*

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

111 / 111

Last intron/exon boundary

1052

Theoretical NMD boundary in CDS

891

Length of CDS

1068

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

127072

Chromosomal position

84205133

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:

1:84205133A>C_9_ENST00000370685

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

Chr1:84205133A>C (GRCh38)

Gene symbol

PRKACB

Gene constraints

LOEUF: 0.51, LOF (oe): 0.32, misssense (oe): 0.67, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000370685.7

Genbank transcript ID

NM_182948 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.906+2328A>C
g.127072A>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	rs1057738
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.658	0.041
	0.608	0.024
(flanking)	-0.195	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

1

Strand

1

Original gDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered gDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAAYREPPCN QYTGTTTALQ KLEGFASRLF HRHSKGTAHD QKTALENDSL HFSEHTALWD
RSMKEFLAKA KEDFLKKWEN PTQNNAGLED FERKKTLGTG SFGRVMLVKH KATEQYYAMK
ILDKQKVVKL KQIEHTLNEK RILQAVNFPF LVRLEYAFKD NSNLYMVMEY VPGGEMFSHL
RRIGRFSEPH ARFYAAQIVL TFEYLHSLDL IYRDLKPENL LIDHQGYIQV TDFGFAKRVK
GRTWTLCGTP EYLAPEIILS KGYNKAVDWW ALGVLIYEMA AGYPPFFADQ PIQIYEKIVS
GKVRFPSHFS SDLKDLLRNL LQVDLTKRFG NLKNGVSDIK THKWFATTDW IAIYQRKVEA
PFIPKFRGSG DTSNFDDYEE EDIRVSITEK CAKEFGEF*

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

92 / 92

Last intron/exon boundary

1162

Theoretical NMD boundary in CDS

1020

Length of CDS

1197

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

127072

Chromosomal position

84205133

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:

1:84205133A>C_10_ENST00000370688

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 3utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr1:84205133A>C (GRCh38)

Gene symbol

PRKACB

Gene constraints

LOEUF: 0.69, LOF (oe): 0.41, misssense (oe): 0.58, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000370688.7

Genbank transcript ID

NM_001375576 (by similarity), NM_207578 (by similarity), NM_001300916 (by similarity), NM_001375579 (by similarity), NM_001375580 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1599A>C
g.127072A>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	rs1057738
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.658	0.041
	0.608	0.024
(flanking)	-0.195	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

polyA signal ok

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered gDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Original cDNA sequence snippet

TTAACTAAAAGTACCAGATTATCTCTCCCCATGTGGGATAT

Altered cDNA sequence snippet

TTAACTAAAAGTACCAGATTCTCTCTCCCCATGTGGGATAT

Wildtype AA sequence

MGNAATAKKG SEVESVKEFL AKAKEDFLKK WENPTQNNAG LEDFERKKTL GTGSFGRVML
VKHKATEQYY AMKILDKQKV VKLKQIEHTL NEKRILQAVN FPFLVRLEYA FKDNSNLYMV
MEYVPGGEMF SHLRRIGRFS EPHARFYAAQ IVLTFEYLHS LDLIYRDLKP ENLLIDHQGY
IQVTDFGFAK RVKGRTWTLC GTPEYLAPEI ILSKGYNKAV DWWALGVLIY EMAAGYPPFF
ADQPIQIYEK IVSGKNF*

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

183 / 183

Last intron/exon boundary

947

Theoretical NMD boundary in CDS

714

Length of CDS

774

Coding sequence (CDS) position

N/A

cDNA position

1599

gDNA position

127072

Chromosomal position

84205133

Speed

0.06 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