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: ENST00000395863
Querying Taster for transcript #2: ENST00000395864
Querying Taster for transcript #3: ENST00000450594
MT speed 0.06 s - this script 2.449536 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000395863(MANE Select)	BMP7	Benign	4\|196	without_aae	Yes	Single base exchange	N/A	Heterozygous in gnomAD Splice site changes
ENST00000395864	BMP7	Benign	4\|196	without_aae	Yes	Single base exchange	N/A	Heterozygous in gnomAD Splice site changes
ENST00000450594	BMP7	Benign	5\|195	without_aae	Yes	Single base exchange	N/A	Heterozygous in gnomAD Splice site changes

MutationT@ster 2025

Variant:

20:57174925C>T_1_ENST00000395863

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Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD
Splice site changes

Model: without_aae
Tree vote: 4|196 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:57174925C>T (GRCh38)

Gene symbol

BMP7

Gene constraints

LOEUF: 0.52, LOF (oe): 0.32, misssense (oe): 0.80, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000395863.8

Genbank transcript ID

NM_001719 (exact from MANE)

UniProt / AlphaMissense peptide

BMP7_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1035+6G>A
g.91717G>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

dbSNP ID	rs114761082
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	21	1925	1946

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.618	0
	0.339	0.06
(flanking)	3.185	0.997

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	91711	wt: 11.08 / mu: 10.77	-	wt: GGGCTGGCAG\|gtaaggggct mu: GGGCTGGCAG\|gtaagaggct

Distance from splice site

6

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

20

Strand

-1

Original gDNA sequence snippet

GACCTGGGCTGGCAGGTAAGGGGCTGGCTGGGTCTGTCTTG

Altered gDNA sequence snippet

GACCTGGGCTGGCAGGTAAGAGGCTGGCTGGGTCTGTCTTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MHVRSLRAAA PHSFVALWAP LFLLRSALAD FSLDNEVHSS FIHRRLRSQE RREMQREILS
ILGLPHRPRP HLQGKHNSAP MFMLDLYNAM AVEEGGGPGG QGFSYPYKAV FSTQGPPLAS
LQDSHFLTDA DMVMSFVNLV EHDKEFFHPR YHHREFRFDL SKIPEGEAVT AAEFRIYKDY
IRERFDNETF RISVYQVLQE HLGRESDLFL LDSRTLWASE EGWLVFDITA TSNHWVVNPR
HNLGLQLSVE TLDGQSINPK LAGLIGRHGP QNKQPFMVAF FKATEVHFRS IRSTGSKQRS
QNRSKTPKNQ EALRMANVAE NSSSDQRQAC KKHELYVSFR DLGWQDWIIA PEGYAAYYCE
GECAFPLNSY MNATNHAIVQ TLVHFINPET VPKPCCAPTQ LNAISVLYFD DSSNVILKKY
RNMVVRACGC H*

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

520 / 520

Last intron/exon boundary

1665

Theoretical NMD boundary in CDS

1095

Length of CDS

1296

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

91717

Chromosomal position

57174925

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:

20:57174925C>T_2_ENST00000395864

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD
Splice site changes

Model: without_aae
Tree vote: 4|196 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:57174925C>T (GRCh38)

Gene symbol

BMP7

Gene constraints

LOEUF: 0.54, LOF (oe): 0.32, misssense (oe): 0.81, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000395864.7

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.837+6G>A
g.91717G>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

dbSNP ID	rs114761082
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	21	1925	1946

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.618	0
	0.339	0.06
(flanking)	3.185	0.997

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	91711	wt: 11.08 / mu: 10.77	-	wt: GGGCTGGCAG\|gtaaggggct mu: GGGCTGGCAG\|gtaagaggct

Distance from splice site

6

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

20

Strand

-1

Original gDNA sequence snippet

GACCTGGGCTGGCAGGTAAGGGGCTGGCTGGGTCTGTCTTG

Altered gDNA sequence snippet

GACCTGGGCTGGCAGGTAAGAGGCTGGCTGGGTCTGTCTTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MHVRSLRAAA PHSFVALWAP LFLLRSALAD FSLDNEVHSS FIHRRLRSQE RREMQREILS
ILGLPHRPRP HLQGKHNSAP MFMLDLYNAM AVEEGGGPGG QGFSYPYKAV FSTQGPPLAS
LQDSHFLTDA DMVMSFVNLV EHDKEFFHPR YHHREFRFDL SKIPEGEAVT AAEFRIYKDY
IRERFDNETF RISVYQVLQE HLGRESDLFL LDSRTLWASE EGWLVFDITA TSNHWVVNPR
HNLGLQLSVE TLDENSSSDQ RQACKKHELY VSFRDLGWQD WIIAPEGYAA YYCEGECAFP
LNSYMNATNH AIVQTLVHFI NPETVPKPCC APTQLNAISV LYFDDSSNVI LKKYRNMVVR
ACGCH*

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

221 / 221

Last intron/exon boundary

1168

Theoretical NMD boundary in CDS

897

Length of CDS

1098

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

91717

Chromosomal position

57174925

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:

20:57174925C>T_3_ENST00000450594

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD
Splice site changes

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

Analysed issue

Analysis result

Variant

Chr20:57174925C>T (GRCh38)

Gene symbol

BMP7

Gene constraints

LOEUF: 0.57, LOF (oe): 0.33, misssense (oe): 0.84, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000450594.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1035+6G>A
g.91717G>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

dbSNP ID	rs114761082
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	21	1925	1946

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.618	0
	0.339	0.06
(flanking)	3.185	0.997

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	91711	wt: 11.08 / mu: 10.77	-	wt: GGGCTGGCAG\|gtaaggggct mu: GGGCTGGCAG\|gtaagaggct

Distance from splice site

6

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

20

Strand

-1

Original gDNA sequence snippet

GACCTGGGCTGGCAGGTAAGGGGCTGGCTGGGTCTGTCTTG

Altered gDNA sequence snippet

GACCTGGGCTGGCAGGTAAGAGGCTGGCTGGGTCTGTCTTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MHVRSLRAAA PHSFVALWAP LFLLRSALAD FSLDNEVHSS FIHRRLRSQE RREMQREILS
ILGLPHRPRP HLQGKHNSAP MFMLDLYNAM AVEEGGGPGG QGFSYPYKAV FSTQGPPLAS
LQDSHFLTDA DMVMSFVNLV EHDKEFFHPR YHHREFRFDL SKIPEGEAVT AAEFRIYKDY
IRERFDNETF RISVYQVLQE HLGRESDLFL LDSRTLWASE EGWLVFDITA TSNHWVVNPR
HNLGLQLSVE TLDGQSINPK LAGLIGRHGP QNKQPFMVAF FKATEVHFRS IRSTGSKQRS
QNRSKTPKNQ EALRMANVAE NSSSDQRQAC KKHELYVSFR DLGWQDWIIA PEGYAAYYCE
GECAFPLNSY MNATNHAIVQ TLVGVTPSWG VVTWAGQAAG PPDPAASKLG PE*

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

508 / 508

Last intron/exon boundary

1542

Theoretical NMD boundary in CDS

984

Length of CDS

1239

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

91717

Chromosomal position

57174925

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