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: ENST00000402731
Querying Taster for transcript #2: ENST00000425190
Querying Taster for transcript #3: ENST00000404276
Querying Taster for transcript #4: ENST00000649563
Querying Taster for transcript #5: ENST00000405598
Querying Taster for transcript #6: ENST00000382580
Querying Taster for transcript #7: ENST00000650281
Querying Taster for transcript #8: ENST00000403642
Querying Taster for transcript #9: ENST00000348295
MT speed 0.4 s - this script 2.823228 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000404276(MANE Select)	CHEK2	Deleterious	79\|21	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000348295	CHEK2	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000405598	CHEK2	Deleterious	94\|6	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000382580	CHEK2	Deleterious	94\|6	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000650281	CHEK2	Deleterious	94\|6	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000425190	CHEK2	Deleterious	99\|1	5utr	No	Single base exchange	N/A
ENST00000402731	CHEK2	Deleterious	183\|17	without_aae	No	Single base exchange	N/A
ENST00000649563	CHEK2	Deleterious	194\|6	without_aae	No	Single base exchange	N/A
ENST00000403642	CHEK2	Deleterious	195\|5	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

22:28725099A>C_3_ENST00000404276

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 79|21 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:28725099A>C (GRCh38)

Gene symbol

CHEK2

Gene constraints

LOEUF: 1.40, LOF (oe): 1.07, misssense (oe): 1.00, synonymous (oe): 0.82 ? (gnomAD)

Ensembl transcript ID

ENST00000404276.6

Genbank transcript ID

NM_007194 (exact from MANE)

UniProt / AlphaMissense peptide

CHK2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.470T>G
g.17324T>G

AA changes

AAE:	I157S	?
Score:	142

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		157	I	F	R	E	V	G	P	K	N	S	Y	I	A	Y	I	E	D	H	S	G	N	G	T	F
mutated	not conserved	157	I	F	R	E	V	G	P	K	N	S	Y	S	A	Y	I	E	D	H	S	G	N	G	T
Ptroglodytes	all identical	200	I	F	R	E	V	G	P	K	N	S	Y	I	A	Y	I	E	D	H	S	G	N	G	T
Mmulatta	all identical	157	I	F	R	E	V	G	P	K	N	S	Y	I	A	Y	I	E	D	H	S	G	N	G	T
Fcatus	all identical	183	I	F	R	E	M	G	P	K	N	S	Y	I	A	Y	I	E	D	H	S	G	N	G	T
Mmusculus	all identical	161	I	F	R	E	M	G	P	K	N	C	Y	I	V	Y	I	E	D	H	S	G	N	G	T
Ggallus	all conserved	134	I	F	R	E	M	G	P	K	N	S	Y	V	A	Y	I	E	D	H	S	A	N	G	T
Trubripes	not conserved	144	I	Y	R	E	-	-	-	-	-	G	C	E	V	F	V	E	D	Y	S	N	N	G	T
Drerio	no homologue
Dmelanogaster	not conserved	112	I	I	K	R	A	N	C	E	L	T	N	P	V	Y	I	Q	D	L	S	R	N	G	T
Celegans	not conserved	581	I	D	R	D	T	E	T	R	R	-	-	-	I	Y	L	H	D	H	S	R	N	G	T
Xtropicalis	all conserved	198											P	V	A	Y	I	E	D	L	S	G	N	G	T

Protein features

Start (aa)	End (aa)	Feature	Details
1	543	CHAIN		lost
113	175	DOMAIN	FHA	lost
154	162	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.93	1
	6.65	1
(flanking)	2.776	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

22

Strand

-1

Original gDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered gDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Original cDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered cDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Wildtype AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLECVN DNYWFGRDKS
CEYCFDEPLL KRTDKYRTYS KKHFRIFREV GPKNSYIAYI EDHSGNGTFV NTELVGKGKR
RPLNNNSEIA LSLSRNKVFV FFDLTVDDQS VYPKALRDEY IMSKTLGSGA CGEVKLAFER
KTCKKVAIKI ISKRKFAIGS AREADPALNV ETEIEILKKL NHPCIIKIKN FFDAEDYYIV
LELMEGGELF DKVVGNKRLK EATCKLYFYQ MLLAVQYLHE NGIIHRDLKP ENVLLSSQEE
DCLIKITDFG HSKILGETSL MRTLCGTPTY LAPEVLVSVG TAGYNRAVDC WSLGVILFIC
LSGYPPFSEH RTQVSLKDQI TSGKYNFIPE VWAEVSEKAL DLVKKLLVVD PKARFTTEEA
LRHPWLQDED MKRKFQDLLS EENESTALPQ VLAQPSTSRK RPREGEAEGA ETTKRPAVCA
AVL*

Mutated AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLECVN DNYWFGRDKS
CEYCFDEPLL KRTDKYRTYS KKHFRIFREV GPKNSYSAYI EDHSGNGTFV NTELVGKGKR
RPLNNNSEIA LSLSRNKVFV FFDLTVDDQS VYPKALRDEY IMSKTLGSGA CGEVKLAFER
KTCKKVAIKI ISKRKFAIGS AREADPALNV ETEIEILKKL NHPCIIKIKN FFDAEDYYIV
LELMEGGELF DKVVGNKRLK EATCKLYFYQ MLLAVQYLHE NGIIHRDLKP ENVLLSSQEE
DCLIKITDFG HSKILGETSL MRTLCGTPTY LAPEVLVSVG TAGYNRAVDC WSLGVILFIC
LSGYPPFSEH RTQVSLKDQI TSGKYNFIPE VWAEVSEKAL DLVKKLLVVD PKARFTTEEA
LRHPWLQDED MKRKFQDLLS EENESTALPQ VLAQPSTSRK RPREGEAEGA ETTKRPAVCA
AVL*

Position of stopcodon in wt / mu CDS

1632 / 1632

Position (AA) of stopcodon in wt / mu AA sequence

544 / 544

Position of stopcodon in wt / mu cDNA

1690 / 1690

Position of start ATG in wt / mu cDNA

59 / 59

Last intron/exon boundary

1600

Theoretical NMD boundary in CDS

1491

Length of CDS

1632

Coding sequence (CDS) position

470

cDNA position

528

gDNA position

17324

Chromosomal position

28725099

Speed

0.08 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:

22:28725099A>C_9_ENST00000348295

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr22:28725099A>C (GRCh38)

Gene symbol

CHEK2

Gene constraints

LOEUF: 1.40, LOF (oe): 1.07, misssense (oe): 0.99, synonymous (oe): 0.83 ? (gnomAD)

Ensembl transcript ID

ENST00000348295.7

Genbank transcript ID

NM_145862 (by similarity)

UniProt / AlphaMissense peptide

CHK2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.470T>G
g.17324T>G

AA changes

AAE:	I157S	?
Score:	142

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		157	I	F	R	E	V	G	P	K	N	S	Y	I	A	Y	I	E	D	H	S	G	N	G	T	F
mutated	not conserved	157	I	F	R	E	V	G	P	K	N	S	Y	S	A	Y	I	E	D	H	S	G	N	G	T
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	543	CHAIN		lost
113	175	DOMAIN	FHA	lost
154	162	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.93	1
	6.65	1
(flanking)	2.776	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

22

Strand

-1

Original gDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered gDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Original cDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered cDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Wildtype AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLECVN DNYWFGRDKS
CEYCFDEPLL KRTDKYRTYS KKHFRIFREV GPKNSYIAYI EDHSGNGTFV NTELVGKGKR
RPLNNNSEIA LSLSRNKVFV FFDLTVDDQS VYPKALRDEY IMSKTLGSGA CGEVKLAFER
KTCKKVAIKI ISKRKFAIGS AREADPALNV ETEIEILKKL NHPCIIKIKN FFDAEDYYIV
LELMEGGELF DKVVGNKRLK EATCKLYFYQ MLLAVQITDF GHSKILGETS LMRTLCGTPT
YLAPEVLVSV GTAGYNRAVD CWSLGVILFI CLSGYPPFSE HRTQVSLKDQ ITSGKYNFIP
EVWAEVSEKA LDLVKKLLVV DPKARFTTEE ALRHPWLQDE DMKRKFQDLL SEENESTALP
QVLAQPSTSR KRPREGEAEG AETTKRPAVC AAVL*

Mutated AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLECVN DNYWFGRDKS
CEYCFDEPLL KRTDKYRTYS KKHFRIFREV GPKNSYSAYI EDHSGNGTFV NTELVGKGKR
RPLNNNSEIA LSLSRNKVFV FFDLTVDDQS VYPKALRDEY IMSKTLGSGA CGEVKLAFER
KTCKKVAIKI ISKRKFAIGS AREADPALNV ETEIEILKKL NHPCIIKIKN FFDAEDYYIV
LELMEGGELF DKVVGNKRLK EATCKLYFYQ MLLAVQITDF GHSKILGETS LMRTLCGTPT
YLAPEVLVSV GTAGYNRAVD CWSLGVILFI CLSGYPPFSE HRTQVSLKDQ ITSGKYNFIP
EVWAEVSEKA LDLVKKLLVV DPKARFTTEE ALRHPWLQDE DMKRKFQDLL SEENESTALP
QVLAQPSTSR KRPREGEAEG AETTKRPAVC AAVL*

Position of stopcodon in wt / mu CDS

1545 / 1545

Position (AA) of stopcodon in wt / mu AA sequence

515 / 515

Position of stopcodon in wt / mu cDNA

1617 / 1617

Position of start ATG in wt / mu cDNA

73 / 73

Last intron/exon boundary

1527

Theoretical NMD boundary in CDS

1404

Length of CDS

1545

Coding sequence (CDS) position

470

cDNA position

542

gDNA position

17324

Chromosomal position

28725099

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

MutationT@ster 2025

Variant:

22:28725099A>C_5_ENST00000405598

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:28725099A>C (GRCh38)

Gene symbol

CHEK2

Gene constraints

LOEUF: 1.40, LOF (oe): 1.07, misssense (oe): 1.00, synonymous (oe): 0.82 ? (gnomAD)

Ensembl transcript ID

ENST00000405598.5

Genbank transcript ID

UniProt / AlphaMissense peptide

CHK2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.470T>G
g.17324T>G

AA changes

AAE:	I157S	?
Score:	142

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		157	I	F	R	E	V	G	P	K	N	S	Y	I	A	Y	I	E	D	H	S	G	N	G	T	F
mutated	not conserved	157	I	F	R	E	V	G	P	K	N	S	Y	S	A	Y	I	E	D	H	S	G	N	G	T
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	543	CHAIN		lost
113	175	DOMAIN	FHA	lost
154	162	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.93	1
	6.65	1
(flanking)	2.776	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

22

Strand

-1

Original gDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered gDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Original cDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered cDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Wildtype AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLECVN DNYWFGRDKS
CEYCFDEPLL KRTDKYRTYS KKHFRIFREV GPKNSYIAYI EDHSGNGTFV NTELVGKGKR
RPLNNNSEIA LSLSRNKVFV FFDLTVDDQS VYPKALRDEY IMSKTLGSGA CGEVKLAFER
KTCKKVAIKI ISKRKFAIGS AREADPALNV ETEIEILKKL NHPCIIKIKN FFDAEDYYIV
LELMEGGELF DKVVGNKRLK EATCKLYFYQ MLLAVQYLHE NGIIHRDLKP ENVLLSSQEE
DCLIKITDFG HSKILGETSL MRTLCGTPTY LAPEVLVSVG TAGYNRAVDC WSLGVILFIC
LSGYPPFSEH RTQVSLKDQI TSGKYNFIPE VWAEVSEKAL DLVKKLLVVD PKARFTTEEA
LRHPWLQDED MKRKFQDLLS EENESTALPQ VLAQPSTSRK RPREGEAEGA ETTKRPAVCA
AVL*

Mutated AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLECVN DNYWFGRDKS
CEYCFDEPLL KRTDKYRTYS KKHFRIFREV GPKNSYSAYI EDHSGNGTFV NTELVGKGKR
RPLNNNSEIA LSLSRNKVFV FFDLTVDDQS VYPKALRDEY IMSKTLGSGA CGEVKLAFER
KTCKKVAIKI ISKRKFAIGS AREADPALNV ETEIEILKKL NHPCIIKIKN FFDAEDYYIV
LELMEGGELF DKVVGNKRLK EATCKLYFYQ MLLAVQYLHE NGIIHRDLKP ENVLLSSQEE
DCLIKITDFG HSKILGETSL MRTLCGTPTY LAPEVLVSVG TAGYNRAVDC WSLGVILFIC
LSGYPPFSEH RTQVSLKDQI TSGKYNFIPE VWAEVSEKAL DLVKKLLVVD PKARFTTEEA
LRHPWLQDED MKRKFQDLLS EENESTALPQ VLAQPSTSRK RPREGEAEGA ETTKRPAVCA
AVL*

Position of stopcodon in wt / mu CDS

1632 / 1632

Position (AA) of stopcodon in wt / mu AA sequence

544 / 544

Position of stopcodon in wt / mu cDNA

1824 / 1824

Position of start ATG in wt / mu cDNA

193 / 193

Last intron/exon boundary

1734

Theoretical NMD boundary in CDS

1491

Length of CDS

1632

Coding sequence (CDS) position

470

cDNA position

662

gDNA position

17324

Chromosomal position

28725099

Speed

0.08 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:

22:28725099A>C_6_ENST00000382580

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:28725099A>C (GRCh38)

Gene symbol

CHEK2

Gene constraints

LOEUF: 1.40, LOF (oe): 1.07, misssense (oe): 1.00, synonymous (oe): 0.82 ? (gnomAD)

Ensembl transcript ID

ENST00000382580.6

Genbank transcript ID

NM_001005735 (by similarity)

UniProt / AlphaMissense peptide

CHK2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.599T>G
g.17324T>G

AA changes

AAE:	I200S	?
Score:	142

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		200	I	F	R	E	V	G	P	K	N	S	Y	I	A	Y	I	E	D	H	S	G	N	G	T	F
mutated	not conserved	200	I	F	R	E	V	G	P	K	N	S	Y	S	A	Y	I	E	D	H	S	G	N	G	T
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	543	CHAIN		lost
197	203	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.93	1
	6.65	1
(flanking)	2.776	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

22

Strand

-1

Original gDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered gDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Original cDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered cDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Wildtype AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLETES GHVTQSDLEL
LLSSDPPASA SQSAGIRGVR HHPRPVCSLK CVNDNYWFGR DKSCEYCFDE PLLKRTDKYR
TYSKKHFRIF REVGPKNSYI AYIEDHSGNG TFVNTELVGK GKRRPLNNNS EIALSLSRNK
VFVFFDLTVD DQSVYPKALR DEYIMSKTLG SGACGEVKLA FERKTCKKVA IKIISKRKFA
IGSAREADPA LNVETEIEIL KKLNHPCIIK IKNFFDAEDY YIVLELMEGG ELFDKVVGNK
RLKEATCKLY FYQMLLAVQY LHENGIIHRD LKPENVLLSS QEEDCLIKIT DFGHSKILGE
TSLMRTLCGT PTYLAPEVLV SVGTAGYNRA VDCWSLGVIL FICLSGYPPF SEHRTQVSLK
DQITSGKYNF IPEVWAEVSE KALDLVKKLL VVDPKARFTT EEALRHPWLQ DEDMKRKFQD
LLSEENESTA LPQVLAQPST SRKRPREGEA EGAETTKRPA VCAAVL*

Mutated AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLETES GHVTQSDLEL
LLSSDPPASA SQSAGIRGVR HHPRPVCSLK CVNDNYWFGR DKSCEYCFDE PLLKRTDKYR
TYSKKHFRIF REVGPKNSYS AYIEDHSGNG TFVNTELVGK GKRRPLNNNS EIALSLSRNK
VFVFFDLTVD DQSVYPKALR DEYIMSKTLG SGACGEVKLA FERKTCKKVA IKIISKRKFA
IGSAREADPA LNVETEIEIL KKLNHPCIIK IKNFFDAEDY YIVLELMEGG ELFDKVVGNK
RLKEATCKLY FYQMLLAVQY LHENGIIHRD LKPENVLLSS QEEDCLIKIT DFGHSKILGE
TSLMRTLCGT PTYLAPEVLV SVGTAGYNRA VDCWSLGVIL FICLSGYPPF SEHRTQVSLK
DQITSGKYNF IPEVWAEVSE KALDLVKKLL VVDPKARFTT EEALRHPWLQ DEDMKRKFQD
LLSEENESTA LPQVLAQPST SRKRPREGEA EGAETTKRPA VCAAVL*

Position of stopcodon in wt / mu CDS

1761 / 1761

Position (AA) of stopcodon in wt / mu AA sequence

587 / 587

Position of stopcodon in wt / mu cDNA

1837 / 1837

Position of start ATG in wt / mu cDNA

77 / 77

Last intron/exon boundary

1747

Theoretical NMD boundary in CDS

1620

Length of CDS

1761

Coding sequence (CDS) position

599

cDNA position

675

gDNA position

17324

Chromosomal position

28725099

Speed

0.08 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:

22:28725099A>C_7_ENST00000650281

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:28725099A>C (GRCh38)

Gene symbol

CHEK2

Gene constraints

LOEUF: 1.40, LOF (oe): 1.07, misssense (oe): 1.00, synonymous (oe): 0.82 ? (gnomAD)

Ensembl transcript ID

ENST00000650281.1

Genbank transcript ID

UniProt / AlphaMissense peptide

CHK2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.470T>G
g.17324T>G

AA changes

AAE:	I157S	?
Score:	142

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		157	I	F	R	E	V	G	P	K	N	S	Y	I	A	Y	I	E	D	H	S	G	N	G	T	F
mutated	not conserved	157	I	F	R	E	V	G	P	K	N	S	Y	S	A	Y	I	E	D	H	S	G	N	G	T
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	543	CHAIN		lost
113	175	DOMAIN	FHA	lost
154	162	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.93	1
	6.65	1
(flanking)	2.776	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

22

Strand

-1

Original gDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered gDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Original cDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered cDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Wildtype AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLECVN DNYWFGRDKS
CEYCFDEPLL KRTDKYRTYS KKHFRIFREV GPKNSYIAYI EDHSGNGTFV NTELVGKGKR
RPLNNNSEIA LSLSRNKVFV FFDLTVDDQS VYPKALRDEY IMSKTLGSGA CGEVKLAFER
KTCKKVAIKI ISKRKFAIGS AREADPALNV ETEIEILKKL NHPCIIKIKN FFDAEDYYIV
LELMEGGELF DKVVGNKRLK EATCKLYFYQ MLLAVQYLHE NGIIHRDLKP ENVLLSSQEE
DCLIKITDFG HSKILGETSL MRTLCGTPTY LAPEVLVSVG TAGYNRAVDC WSLGVILFIC
LSGYPPFSEH RTQVSLKDQI TSGKYNFIPE VWAEVSEKAL DLVKKLLVVD PKARFTTEEA
LRHPWLQDED MKRKFQDLLS EENESTALPQ VLAQPSTSRK RPREGEAEGA ETTKRPAVCA
AVL*

Mutated AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLECVN DNYWFGRDKS
CEYCFDEPLL KRTDKYRTYS KKHFRIFREV GPKNSYSAYI EDHSGNGTFV NTELVGKGKR
RPLNNNSEIA LSLSRNKVFV FFDLTVDDQS VYPKALRDEY IMSKTLGSGA CGEVKLAFER
KTCKKVAIKI ISKRKFAIGS AREADPALNV ETEIEILKKL NHPCIIKIKN FFDAEDYYIV
LELMEGGELF DKVVGNKRLK EATCKLYFYQ MLLAVQYLHE NGIIHRDLKP ENVLLSSQEE
DCLIKITDFG HSKILGETSL MRTLCGTPTY LAPEVLVSVG TAGYNRAVDC WSLGVILFIC
LSGYPPFSEH RTQVSLKDQI TSGKYNFIPE VWAEVSEKAL DLVKKLLVVD PKARFTTEEA
LRHPWLQDED MKRKFQDLLS EENESTALPQ VLAQPSTSRK RPREGEAEGA ETTKRPAVCA
AVL*

Position of stopcodon in wt / mu CDS

1632 / 1632

Position (AA) of stopcodon in wt / mu AA sequence

544 / 544

Position of stopcodon in wt / mu cDNA

1792 / 1792

Position of start ATG in wt / mu cDNA

161 / 161

Last intron/exon boundary

1702

Theoretical NMD boundary in CDS

1491

Length of CDS

1632

Coding sequence (CDS) position

470

cDNA position

630

gDNA position

17324

Chromosomal position

28725099

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

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MutationT@ster 2025

Variant:

22:28725099A>C_2_ENST00000425190

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Prediction:

DeleteriousPermalink

Summary:

Model: 5utr
Tree vote: 99|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:28725099A>C (GRCh38)

Gene symbol

CHEK2

Gene constraints

LOEUF: 1.80, LOF (oe): 1.26, misssense (oe): 1.00, synonymous (oe): 0.74 ? (gnomAD)

Ensembl transcript ID

ENST00000425190.7

Genbank transcript ID

NM_001257387 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.194T>G
g.17324T>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

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.93	1
	6.65	1
(flanking)	2.776	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

22

Strand

-1

Original gDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered gDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Original cDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered cDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Wildtype AA sequence

MSKTLGSGAC GEVKLAFERK TCKKVAIKII SKRKFAIGSA READPALNVE TEIEILKKLN
HPCIIKIKNF FDAEDYYIVL ELMEGGELFD KVVGNKRLKE ATCKLYFYQM LLAVQYLHEN
GIIHRDLKPE NVLLSSQEED CLIKITDFGH SKILGETSLM RTLCGTPTYL APEVLVSVGT
AGYNRAVDCW SLGVILFICL SGYPPFSEHR TQVSLKDQIT SGKYNFIPEV WAEVSEKALD
LVKKLLVVDP KARFTTEEAL RHPWLQDEDM KRKFQDLLSE ENESTALPQV LAQPSTSRKR
PREGEAEGAE TTKRPAVCAA VL*

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

388 / 388

Last intron/exon boundary

1266

Theoretical NMD boundary in CDS

828

Length of CDS

969

Coding sequence (CDS) position

N/A

cDNA position

194

gDNA position

17324

Chromosomal position

28725099

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

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MutationT@ster 2025

Variant:

22:28725099A>C_1_ENST00000402731

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Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 183|17 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:28725099A>C (GRCh38)

Gene symbol

CHEK2

Gene constraints

LOEUF: 1.51, LOF (oe): 1.15, misssense (oe): 0.99, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000402731.6

Genbank transcript ID

NM_001349956 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.444+144T>G
g.17324T>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

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.93	1
	6.65	1
(flanking)	2.776	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

N/A

AA sequence altered

N/A

Chromosome

22

Strand

-1

Original gDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered gDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLECVN DNYWFGRDKS
CEYCFDEPLL KRTDKYRTYS KKHFRIFREE NLSCPYRIWF NGACGEVKLA FERKTCKKVA
IKIISKRKFA IGSAREADPA LNVETEIEIL KKLNHPCIIK IKNFFDAEDY YIVLELMEGG
ELFDKVVGNK RLKEATCKLY FYQMLLAVQY LHENGIIHRD LKPENVLLSS QEEDCLIKIT
DFGHSKILGE TSLMRTLCGT PTYLAPEVLV SVGTAGYNRA VDCWSLGVIL FICLSGYPPF
SEHRTQVSLK DQITSGKYNF IPEVWAEVSE KALDLVKKLL VVDPKARFTT EEALRHPWLQ
DEDMKRKFQD LLSEENESTA LPQVLAQPST SRKRPREGEA EGAETTKRPA VCAAVL*

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

7 / 7

Last intron/exon boundary

1347

Theoretical NMD boundary in CDS

1290

Length of CDS

1431

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

17324

Chromosomal position

28725099

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:

22:28725099A>C_4_ENST00000649563

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Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 194|6 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:28725099A>C (GRCh38)

Gene symbol

CHEK2

Gene constraints

LOEUF: 1.80, LOF (oe): 1.26, misssense (oe): 1.00, synonymous (oe): 0.74 ? (gnomAD)

Ensembl transcript ID

ENST00000649563.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-71-5614T>G
g.17324T>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

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.93	1
	6.65	1
(flanking)	2.776	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

N/A

AA sequence altered

N/A

Chromosome

22

Strand

-1

Original gDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered gDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSKTLGSGAC GEVKLAFERK TCKKVAIKII SKRKFAIGSA READPALNVE TEIEILKKLN
HPCIIKIKNF FDAEDYYIVL ELMEGGELFD KVVGNKRLKE ATCKLYFYQM LLAVQYLHEN
GIIHRDLKPE NVLLSSQEED CLIKITDFGH SKILGETSLM RTLCGTPTYL APEVLVSVGT
AGYNRAVDCW SLGVILFICL SGYPPFSEHR TQVSLKDQIT SGKYNFIPEV WAEVSEKALD
LVKKLLVVDP KARFTTEEAL RHPWLQDEDM KRKFQDLLSE ENESTALPQV LAQPSTSRKR
PREGEAEGAE TTKRPAVCAA VL*

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

110 / 110

Last intron/exon boundary

988

Theoretical NMD boundary in CDS

828

Length of CDS

969

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

17324

Chromosomal position

28725099

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

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MutationT@ster 2025

Variant:

22:28725099A>C_8_ENST00000403642

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Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 195|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:28725099A>C (GRCh38)

Gene symbol

CHEK2

Gene constraints

LOEUF: 1.68, LOF (oe): 1.25, misssense (oe): 0.98, synonymous (oe): 0.80 ? (gnomAD)

Ensembl transcript ID

ENST00000403642.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.320-5614T>G
g.17324T>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

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.93	1
	6.65	1
(flanking)	2.776	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

N/A

AA sequence altered

N/A

Chromosome

22

Strand

-1

Original gDNA sequence snippet

GGGTCCTAAAAACTCTTACATTGCATACATAGAAGATCACA

Altered gDNA sequence snippet

GGGTCCTAAAAACTCTTACAGTGCATACATAGAAGATCACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSRESDVEAQ QSHGSSACSQ PHGSVTQSQG SSSQSQGISS SSTSTMPNSS QSSHSSSGTL
SSLETVSTQE LYSIPEDQEP EDQEPEEPTP APWARLWALQ DGFANLVFVF FDLTVDDQSV
YPKALRDEYI MSKTLGSGAC GEVKLAFERK TCKKVAIKII SKRKFAIGSA READPALNVE
TEIEILKKLN HPCIIKIKNF FDAEDYYIVL ELMEGGELFD KVVGNKRLKE ATCKLYFYQM
LLAVQYLHEN GIIHRDLKPE NVLLSSQEED CLIKITDFGH SKILGETSLM RTLCGTPTYL
APEVLVSVGT AGYNRAVDCW SLGVILFICL SGYPPFSEHR TQVSLKDQIT SGKYNFIPEV
WAEVSEKALD LVKKLLVVDP KARFTTEEAL RHPWLQDEDM KRKFQDLLSE ENESTALPQV
LAQPSTSRKR PREGEAEGAE TTKRPAVCAA VL*

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

1 / 1

Last intron/exon boundary

1269

Theoretical NMD boundary in CDS

1218

Length of CDS

1359

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

17324

Chromosomal position

28725099

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