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: ENST00000322610
Querying Taster for transcript #2: ENST00000337120
Querying Taster for transcript #3: ENST00000618521
Querying Taster for transcript #4: ENST00000538342
Querying Taster for transcript #5: ENST00000684370
Querying Taster for transcript #6: ENST00000707128
Querying Taster for transcript #7: ENST00000395532
MT speed 0.11 s - this script 2.518323 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
ENST00000322610	SH2B1	Benign	0\|200	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD
ENST00000337120	SH2B1	Benign	0\|200	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD
ENST00000618521	SH2B1	Benign	0\|200	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD
ENST00000684370(MANE Select)	SH2B1	Benign	0\|200	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD
ENST00000395532	SH2B1	Benign	0\|200	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD
ENST00000538342	SH2B1	Benign	1\|199	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000707128	SH2B1	Benign	34\|166	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD

MutationT@ster 2025

Variant:

16:28866160G>C_1_ENST00000322610

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:28866160G>C (GRCh38)

Gene symbol

SH2B1

Gene constraints

LOEUF: 0.37, LOF (oe): 0.24, misssense (oe): 0.93, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000322610.12

Genbank transcript ID

NM_001308293 (by similarity), NM_001387404 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.66G>C
g.19561G>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs945365382
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1691	1691

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.716	0.979
	0.206	0.967
(flanking)	2.714	0.998

?

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

No

Chromosome

16

Strand

1

Original gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Original cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Wildtype AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQEPTTSHDP PQPPEPPSWT DPPQPGAEEA
SRAPEVAAAA AAAAKERQEK EKAGGGGVPE ELVPVVELVP VVELEEAIAP GSEAQGAGSG
GDAGVPPMVQ LQQSPLGGDG EEGGHPRAIN NQYSFV*

Mutated AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQEPTTSHDP PQPPEPPSWT DPPQPGAEEA
SRAPEVAAAA AAAAKERQEK EKAGGGGVPE ELVPVVELVP VVELEEAIAP GSEAQGAGSG
GDAGVPPMVQ LQQSPLGGDG EEGGHPRAIN NQYSFV*

Position of stopcodon in wt / mu CDS

2271 / 2271

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

757 / 757

Position of stopcodon in wt / mu cDNA

2710 / 2710

Position of start ATG in wt / mu cDNA

440 / 440

Last intron/exon boundary

2336

Theoretical NMD boundary in CDS

1846

Length of CDS

2271

Coding sequence (CDS) position

66

cDNA position

505

gDNA position

19561

Chromosomal position

28866160

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:

16:28866160G>C_2_ENST00000337120

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:28866160G>C (GRCh38)

Gene symbol

SH2B1

Gene constraints

LOEUF: 0.33, LOF (oe): 0.20, misssense (oe): 0.91, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000337120.9

Genbank transcript ID

NM_015503 (by similarity), NM_001145812 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.66G>C
g.19561G>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs945365382
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1691	1691

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.716	0.979
	0.206	0.967
(flanking)	2.714	0.998

?

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

No

Chromosome

16

Strand

1

Original gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Original cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Wildtype AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQGREQAGSH AGVCEGDGCH PDASCTLMPF
GASDCVTDHL P*

Mutated AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQGREQAGSH AGVCEGDGCH PDASCTLMPF
GASDCVTDHL P*

Position of stopcodon in wt / mu CDS

2016 / 2016

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

672 / 672

Position of stopcodon in wt / mu cDNA

5307 / 5307

Position of start ATG in wt / mu cDNA

3292 / 3292

Last intron/exon boundary

5288

Theoretical NMD boundary in CDS

1946

Length of CDS

2016

Coding sequence (CDS) position

66

cDNA position

3357

gDNA position

19561

Chromosomal position

28866160

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:

16:28866160G>C_3_ENST00000618521

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:28866160G>C (GRCh38)

Gene symbol

SH2B1

Gene constraints

LOEUF: 0.37, LOF (oe): 0.24, misssense (oe): 0.93, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000618521.4

Genbank transcript ID

NM_001145795 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.66G>C
g.19561G>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs945365382
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1691	1691

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.716	0.979
	0.206	0.967
(flanking)	2.714	0.998

?

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

No

Chromosome

16

Strand

1

Original gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Original cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Wildtype AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQEPTTSHDP PQPPEPPSWT DPPQPGAEEA
SRAPEVAAAA AAAAKERQEK EKAGGGGVPE ELVPVVELVP VVELEEAIAP GSEAQGAGSG
GDAGVPPMVQ LQQSPLGGDG EEGGHPRAIN NQYSFV*

Mutated AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQEPTTSHDP PQPPEPPSWT DPPQPGAEEA
SRAPEVAAAA AAAAKERQEK EKAGGGGVPE ELVPVVELVP VVELEEAIAP GSEAQGAGSG
GDAGVPPMVQ LQQSPLGGDG EEGGHPRAIN NQYSFV*

Position of stopcodon in wt / mu CDS

2271 / 2271

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

757 / 757

Position of stopcodon in wt / mu cDNA

2543 / 2543

Position of start ATG in wt / mu cDNA

273 / 273

Last intron/exon boundary

2169

Theoretical NMD boundary in CDS

1846

Length of CDS

2271

Coding sequence (CDS) position

66

cDNA position

338

gDNA position

19561

Chromosomal position

28866160

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:

16:28866160G>C_5_ENST00000684370

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:28866160G>C (GRCh38)

Gene symbol

SH2B1

Gene constraints

LOEUF: 0.37, LOF (oe): 0.24, misssense (oe): 0.93, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000684370.1

Genbank transcript ID

NM_001387430 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.66G>C
g.19561G>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs945365382
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1691	1691

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.716	0.979
	0.206	0.967
(flanking)	2.714	0.998

?

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

No

Chromosome

16

Strand

1

Original gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Original cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Wildtype AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQEPTTSHDP PQPPEPPSWT DPPQPGAEEA
SRAPEVAAAA AAAAKERQEK EKAGGGGVPE ELVPVVELVP VVELEEAIAP GSEAQGAGSG
GDAGVPPMVQ LQQSPLGGDG EEGGHPRAIN NQYSFV*

Mutated AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQEPTTSHDP PQPPEPPSWT DPPQPGAEEA
SRAPEVAAAA AAAAKERQEK EKAGGGGVPE ELVPVVELVP VVELEEAIAP GSEAQGAGSG
GDAGVPPMVQ LQQSPLGGDG EEGGHPRAIN NQYSFV*

Position of stopcodon in wt / mu CDS

2271 / 2271

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

757 / 757

Position of stopcodon in wt / mu cDNA

4523 / 4523

Position of start ATG in wt / mu cDNA

2253 / 2253

Last intron/exon boundary

4149

Theoretical NMD boundary in CDS

1846

Length of CDS

2271

Coding sequence (CDS) position

66

cDNA position

2318

gDNA position

19561

Chromosomal position

28866160

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:

16:28866160G>C_7_ENST00000395532

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:28866160G>C (GRCh38)

Gene symbol

SH2B1

Gene constraints

LOEUF: 0.33, LOF (oe): 0.20, misssense (oe): 0.91, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000395532.8

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.66G>C
g.19561G>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs945365382
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1691	1691

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.716	0.979
	0.206	0.967
(flanking)	2.714	0.998

?

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

No

Chromosome

16

Strand

1

Original gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Original cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Wildtype AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQGREQAGSH AGVCEGDGCH PDASCTLMPF
GASDCVTDHL P*

Mutated AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQGREQAGSH AGVCEGDGCH PDASCTLMPF
GASDCVTDHL P*

Position of stopcodon in wt / mu CDS

2016 / 2016

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

672 / 672

Position of stopcodon in wt / mu cDNA

2387 / 2387

Position of start ATG in wt / mu cDNA

372 / 372

Last intron/exon boundary

2368

Theoretical NMD boundary in CDS

1946

Length of CDS

2016

Coding sequence (CDS) position

66

cDNA position

437

gDNA position

19561

Chromosomal position

28866160

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:

16:28866160G>C_4_ENST00000538342

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Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 1|199 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:28866160G>C (GRCh38)

Gene symbol

SH2B1

Gene constraints

LOEUF: 0.34, LOF (oe): 0.17, misssense (oe): 0.85, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000538342.5

Genbank transcript ID

NM_001308294 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-26-1214G>C
g.19561G>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	rs945365382
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1691	1691

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.716	0.979
	0.206	0.967
(flanking)	2.714	0.998

?

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

16

Strand

1

Original gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPDRENTFVV KVEGPSEYIM ETVDAQHVKA WVSDIQECLS PGPCPATSPR PMTLPLAPGT
SFLTRENTDS LELSCLNHSE SLPSQDLLLG PSESNDRLSQ GAYGGLSDRP SASISPSSAS
IAASHFDSME LLPPELPPRI PIEEGPPTGT VHPLSAPYPP LDTPETATGS FLFQGEPEGG
EGDQPLSGYP WFHGMLSRLK AAQLVLTGGT GSHGVFLVRQ SETRRGEYVL TFNFQGKAKH
LRLSLNEEGQ CRVQHLWFQS IFDMLEHFRV HPIPLESGGS SDVVLVSYVP SSQRQQGREQ
AGSHAGVCEG DGCHPDASCT LMPFGASDCV TDHLP*

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

167 / 167

Last intron/exon boundary

1155

Theoretical NMD boundary in CDS

938

Length of CDS

1008

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

19561

Chromosomal position

28866160

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:

16:28866160G>C_6_ENST00000707128

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Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 34|166 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:28866160G>C (GRCh38)

Gene symbol

SH2B1

Gene constraints

no data

Ensembl transcript ID

ENST00000707128.1

Genbank transcript ID

NM_001145796 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.66G>C
g.19561G>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs945365382
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1691	1691

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.716	0.979
	0.206	0.967
(flanking)	2.714	0.998

?

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

No

Chromosome

16

Strand

1

Original gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered gDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Original cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTT

Altered cDNA sequence snippet

CCCCCGCTGCCCCCACCCCCCCCCCCTAGTTGGCGGGAGTT

Wildtype AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQGREQAGSH AGVCEGDGCH PDASCTLMPF
GASDCVTDHL P*

Mutated AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQGREQAGSH AGVCEGDGCH PDASCTLMPF
GASDCVTDHL P*

Position of stopcodon in wt / mu CDS

2016 / 2016

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

672 / 672

Position of stopcodon in wt / mu cDNA

2202 / 2202

Position of start ATG in wt / mu cDNA

187 / 187

Last intron/exon boundary

2183

Theoretical NMD boundary in CDS

1946

Length of CDS

2016

Coding sequence (CDS) position

66

cDNA position

252

gDNA position

19561

Chromosomal position

28866160

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