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: ENST00000441698
Querying Taster for transcript #2: ENST00000518255
Querying Taster for transcript #3: ENST00000521209
Querying Taster for transcript #4: ENST00000528246
Querying Taster for transcript #5: ENST00000382490
Querying Taster for transcript #6: ENST00000317173
MT speed 0.1 s - this script 2.475623 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000441698	MSRA	Deleterious	102\|98	without_aae	No	Deletion	N/A	Heterozygous in gnomAD
ENST00000317173(MANE Select)	MSRA	Deleterious	106\|94	without_aae	No	Deletion	N/A	Heterozygous in gnomAD
ENST00000521209	MSRA	Deleterious	108\|92	without_aae	No	Deletion	N/A	Heterozygous in gnomAD
ENST00000382490	MSRA	Deleterious	113\|87	without_aae	No	Deletion	N/A	Heterozygous in gnomAD
ENST00000528246	MSRA	Deleterious	117\|83	without_aae	No	Deletion	N/A	Heterozygous in gnomAD
ENST00000518255	MSRA	Benign	98\|102	without_aae	No	Deletion	N/A	Heterozygous in gnomAD

MutationT@ster 2025

Variant:

8:10207815CT>C_1_ENST00000441698

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 102|98 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:10207816delT (GRCh38)

Gene symbol

MSRA

Gene constraints

LOEUF: 1.98, LOF (oe): 2.00, misssense (oe): 1.74, synonymous (oe): 1.50 ? (gnomAD)

Ensembl transcript ID

ENST00000441698.6

Genbank transcript ID

NM_001135670 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

intron

DNA changes

c.143-17delT
g.153525delT

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	rs77793822
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	4	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.889	1
	3.072	0.954
(flanking)	0.305	0.914

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

17

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

1

Original gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTTCTAGCCAA

Altered gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTCTAGCCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MLSATRRACQ LLLLHSLFPV PRMGNSASNI VSPQEALPGR KEQTPVAAKH HVNGNRTVEP
FPEGTQMAVF EKTGHAEVVR VVYQPEHMSF EELLKVFWEN HDPTQGMRQG NDHGTQYRSA
IYPTSAKQME AALSSKENYQ KVLSEHGFGP ITTDIREGQT FYYAEDYHQQ YLSKNPNGYC
GLGGTGVSCP VGIKK*

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

148 / 148

Last intron/exon boundary

570

Theoretical NMD boundary in CDS

372

Length of CDS

588

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

153524 / 153526

Chromosomal position

10207815 / 10207817

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:

8:10207815CT>C_6_ENST00000317173

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 106|94 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:10207816delT (GRCh38)

Gene symbol

MSRA

Gene constraints

LOEUF: 1.98, LOF (oe): 1.87, misssense (oe): 1.70, synonymous (oe): 1.47 ? (gnomAD)

Ensembl transcript ID

ENST00000317173.9

Genbank transcript ID

NM_012331 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

intron

DNA changes

c.143-17delT
g.153525delT

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	rs77793822
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	4	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.889	1
	3.072	0.954
(flanking)	0.305	0.914

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

17

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

1

Original gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTTCTAGCCAA

Altered gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTCTAGCCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MLSATRRACQ LLLLHSLFPV PRMGNSASNI VSPQEALPGR KEQTPVAAKH HVNGNRTVEP
FPEGTQMAVF GMGCFWGAER KFWVLKGVYS TQVGFAGGYT SNPTYKEVCS EKTGHAEVVR
VVYQPEHMSF EELLKVFWEN HDPTQGMRQG NDHGTQYRSA IYPTSAKQME AALSSKENYQ
KVLSEHGFGP ITTDIREGQT FYYAEDYHQQ YLSKNPNGYC GLGGTGVSCP VGIKK*

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

226 / 226

Last intron/exon boundary

768

Theoretical NMD boundary in CDS

492

Length of CDS

708

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

153524 / 153526

Chromosomal position

10207815 / 10207817

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:

8:10207815CT>C_3_ENST00000521209

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 108|92 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:10207816delT (GRCh38)

Gene symbol

MSRA

Gene constraints

LOEUF: 1.94, LOF (oe): 1.62, misssense (oe): 1.56, synonymous (oe): 1.24 ? (gnomAD)

Ensembl transcript ID

ENST00000521209.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

intron

DNA changes

c.-56-17delT
g.153525delT

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	rs77793822
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	4	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.889	1
	3.072	0.954
(flanking)	0.305	0.914

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

17

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

1

Original gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTTCTAGCCAA

Altered gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTCTAGCCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAVFGMGCFW GAERKFWVLK GVYSTQVGFA GGYTSNPTYK EVCSDVQNNS MFISLFKSF*

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

187 / 187

Last intron/exon boundary

319

Theoretical NMD boundary in CDS

82

Length of CDS

180

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

153524 / 153526

Chromosomal position

10207815 / 10207817

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:

8:10207815CT>C_5_ENST00000382490

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 113|87 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:10207816delT (GRCh38)

Gene symbol

MSRA

Gene constraints

LOEUF: 1.97, LOF (oe): 1.82, misssense (oe): 1.57, synonymous (oe): 1.34 ? (gnomAD)

Ensembl transcript ID

ENST00000382490.9

Genbank transcript ID

NM_001135671 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

intron

DNA changes

c.14-17delT
g.153525delT

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	rs77793822
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	4	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.889	1
	3.072	0.954
(flanking)	0.305	0.914

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

17

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

1

Original gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTTCTAGCCAA

Altered gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTCTAGCCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MCSEPKHHVN GNRTVEPFPE GTQMAVFGMG CFWGAERKFW VLKGVYSTQV GFAGGYTSNP
TYKEVCSEKT GHAEVVRVVY QPEHMSFEEL LKVFWENHDP TQGMRQGNDH GTQYRSAIYP
TSAKQMEAAL SSKENYQKVL SEHGFGPITT DIREGQTFYY AEDYHQQYLS KNPNGYCGLG
GTGVSCPVGI KK*

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

305 / 305

Last intron/exon boundary

718

Theoretical NMD boundary in CDS

363

Length of CDS

579

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

153524 / 153526

Chromosomal position

10207815 / 10207817

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:

8:10207815CT>C_4_ENST00000528246

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 117|83 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:10207816delT (GRCh38)

Gene symbol

MSRA

Gene constraints

LOEUF: 1.96, LOF (oe): 1.73, misssense (oe): 1.56, synonymous (oe): 1.32 ? (gnomAD)

Ensembl transcript ID

ENST00000528246.5

Genbank transcript ID

NM_001199729 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

intron

DNA changes

c.-56-17delT
g.153525delT

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	rs77793822
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	4	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.889	1
	3.072	0.954
(flanking)	0.305	0.914

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

17

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

1

Original gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTTCTAGCCAA

Altered gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTCTAGCCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAVFGMGCFW GAERKFWVLK GVYSTQVGFA GGYTSNPTYK EVCSEKTGHA EVVRVVYQPE
HMSFEELLKV FWENHDPTQG MRQGNDHGTQ YRSAIYPTSA KQMEAALSSK ENYQKVLSEH
GFGPITTDIR EGQTFYYAED YHQQYLSKNP NGYCGLGGTG VSCPVGIKK*

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

624 / 624

Last intron/exon boundary

968

Theoretical NMD boundary in CDS

294

Length of CDS

510

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

153524 / 153526

Chromosomal position

10207815 / 10207817

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:

8:10207815CT>C_2_ENST00000518255

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 98|102 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:10207816delT (GRCh38)

Gene symbol

MSRA

Gene constraints

LOEUF: 1.98, LOF (oe): 2.04, misssense (oe): 1.75, synonymous (oe): 1.53 ? (gnomAD)

Ensembl transcript ID

ENST00000518255.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

intron

DNA changes

c.143-17delT
g.153525delT

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	rs77793822
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	4	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.889	1
	3.072	0.954
(flanking)	0.305	0.914

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

17

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

1

Original gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTTCTAGCCAA

Altered gDNA sequence snippet

TACACTTAAACTTGCATTTCTTTTTTTTTTTTCTAGCCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MLSATRRACQ LLLLHSLFPV PRMGNSASNI VSPQEALPGR KEQTPVAAKH HVNGNRTVEP
FPEGTQMAVF GMGCFWGAER KFWVLKGVYS TQVGFAGGYT SNPTYKEVCS EKTGHAEVVR
VVYQPEHMSF EELLKVFWEN HDPTQGMRQG NDHGTQYRSA IYPTSAKQME AALSSKENYQ
KLVLPCSSSA MLGLTAASSA QLAWVQPSSR KHY*

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

17 / 17

Last intron/exon boundary

559

Theoretical NMD boundary in CDS

492

Length of CDS

642

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

153524 / 153526

Chromosomal position

10207815 / 10207817

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