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: ENST00000697292
Querying Taster for transcript #2: ENST00000697293
Querying Taster for transcript #3: ENST00000517337
Querying Taster for transcript #4: ENST00000697298
Querying Taster for transcript #5: ENST00000697299
Querying Taster for transcript #6: ENST00000697304
Querying Taster for transcript #7: ENST00000697307
Querying Taster for transcript #8: ENST00000697308
Querying Taster for transcript #9: ENST00000523444
Querying Taster for transcript #10: ENST00000409330
Querying Taster for transcript #11: ENST00000697309
Querying Taster for transcript #12: ENST00000697310
Querying Taster for transcript #13: ENST00000265433
MT speed 1.08 s - this script 3.612973 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000697293	NBN	Benign	69\|31	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000697292	NBN	Benign	69\|31	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000697298	NBN	Benign	69\|31	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000697299	NBN	Benign	69\|31	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000697304	NBN	Benign	69\|31	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000697307	NBN	Benign	69\|31	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000697308	NBN	Benign	69\|31	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000697309	NBN	Benign	69\|31	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000697310	NBN	Benign	69\|31	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000523444	NBN	Benign	70\|30	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000409330	NBN	Benign	79\|21	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000265433(MANE Select)	NBN	Benign	83\|17	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000517337	NBN	Benign	88\|12	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD

MutationT@ster 2025

Variant:

8:89978251C>G_2_ENST00000697293

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 69|31 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

no data

Ensembl transcript ID

ENST00000697293.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.553G>C
g.24978G>C

AA changes

AAE:	E185Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		185	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	185								L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR
SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE
EWLRQEMELP FYCFPHYLLL EFQLNVQNQH AKEESLADDL FRYNPYLKRR R*

Mutated AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVQSKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR
SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE
EWLRQEMELP FYCFPHYLLL EFQLNVQNQH AKEESLADDL FRYNPYLKRR R*

Position of stopcodon in wt / mu CDS

2316 / 2316

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

772 / 772

Position of stopcodon in wt / mu cDNA

2426 / 2426

Position of start ATG in wt / mu cDNA

111 / 111

Last intron/exon boundary

2395

Theoretical NMD boundary in CDS

2234

Length of CDS

2316

Coding sequence (CDS) position

553

cDNA position

663

gDNA position

24978

Chromosomal position

89978251

Speed

0.09 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:

8:89978251C>G_1_ENST00000697292

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 69|31 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

no data

Ensembl transcript ID

ENST00000697292.1

Genbank transcript ID

UniProt / AlphaMissense peptide

NBN_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.553G>C
g.24978G>C

AA changes

AAE:	E185Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		185	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	185								L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
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	754	CHAIN		lost
111	328	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR
SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE
EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL KRRR*

Mutated AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVQSKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR
SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE
EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL KRRR*

Position of stopcodon in wt / mu CDS

2265 / 2265

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

755 / 755

Position of stopcodon in wt / mu cDNA

2386 / 2386

Position of start ATG in wt / mu cDNA

122 / 122

Last intron/exon boundary

2424

Theoretical NMD boundary in CDS

2252

Length of CDS

2265

Coding sequence (CDS) position

553

cDNA position

674

gDNA position

24978

Chromosomal position

89978251

Speed

0.09 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:

8:89978251C>G_4_ENST00000697298

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 69|31 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

no data

Ensembl transcript ID

ENST00000697298.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.307G>C
g.24978G>C

AA changes

AAE:	E103Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		103	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	103	P	E	Y	F	T	E	F	L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MQNGFSRTLK SGDGITFGVF GSKFRIEYEP LVACSSCLDV SGKTALNQAI LQLGGFTVNN
WTEECTHLVM VSVKVTIKTI CALICGRPIV KPEYFTEFLK AVESKKQPPQ IESFYPPLDE
PSIGSKNVDL SGRQERKQIF KGKTFIFLNA KQHKKLSSAV VFGGGEARLI TEENEEEHNF
FLAPGTCVVD TGITNSQTLI PDCQKKWIQS IMDMLQRQGL RPIPEAEIGL AVIFMTTKNY
CDPQGHPSTG LKTTTPGPSL SQGVSVDEKL MPSAPVNTTT YVADTESEQA DTWDLSERPK
EIKVSKMEQK FRMLSQDAPT VKESCKTSSN NNSMVSNTLA KMRIPNYQLS PTKLPSINKS
KDRASQQQQT NSIRNYFQPS TKKRERDEEN QEMSSCKSAR IETSCSLLEQ TQPATPSLWK
NKEQHLSENE PVDTNSDNNL FTDTDLKSIV KNSASKSHAA EKLRSNKKRE MDDVAIEDEV
LEQLFKDTKP ELEIDVKVQK QEEDVNVRKR PRMDIETNDT FSDEAVPESS KISQENEIGK
KRELKEDSLW SAKEISNNDK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP SGINDDYGQL
KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH ARKNTELEEW LRQEMEVQNQ HAKEESLADD
LFRYNPYLKR RR*

Mutated AA sequence

MQNGFSRTLK SGDGITFGVF GSKFRIEYEP LVACSSCLDV SGKTALNQAI LQLGGFTVNN
WTEECTHLVM VSVKVTIKTI CALICGRPIV KPEYFTEFLK AVQSKKQPPQ IESFYPPLDE
PSIGSKNVDL SGRQERKQIF KGKTFIFLNA KQHKKLSSAV VFGGGEARLI TEENEEEHNF
FLAPGTCVVD TGITNSQTLI PDCQKKWIQS IMDMLQRQGL RPIPEAEIGL AVIFMTTKNY
CDPQGHPSTG LKTTTPGPSL SQGVSVDEKL MPSAPVNTTT YVADTESEQA DTWDLSERPK
EIKVSKMEQK FRMLSQDAPT VKESCKTSSN NNSMVSNTLA KMRIPNYQLS PTKLPSINKS
KDRASQQQQT NSIRNYFQPS TKKRERDEEN QEMSSCKSAR IETSCSLLEQ TQPATPSLWK
NKEQHLSENE PVDTNSDNNL FTDTDLKSIV KNSASKSHAA EKLRSNKKRE MDDVAIEDEV
LEQLFKDTKP ELEIDVKVQK QEEDVNVRKR PRMDIETNDT FSDEAVPESS KISQENEIGK
KRELKEDSLW SAKEISNNDK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP SGINDDYGQL
KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH ARKNTELEEW LRQEMEVQNQ HAKEESLADD
LFRYNPYLKR RR*

Position of stopcodon in wt / mu CDS

2019 / 2019

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

673 / 673

Position of stopcodon in wt / mu cDNA

2604 / 2604

Position of start ATG in wt / mu cDNA

586 / 586

Last intron/exon boundary

2573

Theoretical NMD boundary in CDS

1937

Length of CDS

2019

Coding sequence (CDS) position

307

cDNA position

892

gDNA position

24978

Chromosomal position

89978251

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:

8:89978251C>G_5_ENST00000697299

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 69|31 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

no data

Ensembl transcript ID

ENST00000697299.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.307G>C
g.24978G>C

AA changes

AAE:	E103Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		103	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	103	P	E	Y	F	T	E	F	L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MQNGFSRTLK SGDGITFGVF GSKFRIEYEP LVACSSCLDV SGKTALNQAI LQLGGFTVNN
WTEECTHLVM VSVKVTIKTI CALICGRPIV KPEYFTEFLK AVESKKQPPQ IESFYPPLDE
PSIGSKNVDL SGRQERKQIF KGKTFIFLNA KQHKKLSSAV VFGGGEARLI TEENEEEHNF
FLAPGTCVVD TGITNSQTLI PDCQKKWIQS IMDMLQRQGL RPIPEAEIGL AVIFMTTKNY
CDPQGHPSTG LKTTTPGPSL SQGVSVDEKL MPSAPVNTTT YVADTESEQA DTWDLSERPK
EIKVSKMEQK FRMLSQDAPT VKESCKTSSN NNSMVSNTLA KMRIPNYQLS PTKLPSINKS
KDRASQQQQT NSIRNYFQPS TKKRERDEEN QEMSSCKSAR IETSCSLLEQ TQPATPSLWK
NKEQHLSENE PVDTNSDNNL FTDTDLKSIV KNSASKSHAA EKLRSNKKRE MDDVAIEDEV
LEQLFKDTKP ELEIDVKVQK QEEDVNVRKR PRMDIETNDT FSDEAVPESS KISQENEIGK
KRELKEDSLW SAKEISNNDK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP SGINDDYGQL
KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH ARKNTELEEW LRQEMEVQNQ HAKEESLADD
LFRYNPYLKR RR*

Mutated AA sequence

MQNGFSRTLK SGDGITFGVF GSKFRIEYEP LVACSSCLDV SGKTALNQAI LQLGGFTVNN
WTEECTHLVM VSVKVTIKTI CALICGRPIV KPEYFTEFLK AVQSKKQPPQ IESFYPPLDE
PSIGSKNVDL SGRQERKQIF KGKTFIFLNA KQHKKLSSAV VFGGGEARLI TEENEEEHNF
FLAPGTCVVD TGITNSQTLI PDCQKKWIQS IMDMLQRQGL RPIPEAEIGL AVIFMTTKNY
CDPQGHPSTG LKTTTPGPSL SQGVSVDEKL MPSAPVNTTT YVADTESEQA DTWDLSERPK
EIKVSKMEQK FRMLSQDAPT VKESCKTSSN NNSMVSNTLA KMRIPNYQLS PTKLPSINKS
KDRASQQQQT NSIRNYFQPS TKKRERDEEN QEMSSCKSAR IETSCSLLEQ TQPATPSLWK
NKEQHLSENE PVDTNSDNNL FTDTDLKSIV KNSASKSHAA EKLRSNKKRE MDDVAIEDEV
LEQLFKDTKP ELEIDVKVQK QEEDVNVRKR PRMDIETNDT FSDEAVPESS KISQENEIGK
KRELKEDSLW SAKEISNNDK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP SGINDDYGQL
KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH ARKNTELEEW LRQEMEVQNQ HAKEESLADD
LFRYNPYLKR RR*

Position of stopcodon in wt / mu CDS

2019 / 2019

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

673 / 673

Position of stopcodon in wt / mu cDNA

2237 / 2237

Position of start ATG in wt / mu cDNA

219 / 219

Last intron/exon boundary

2206

Theoretical NMD boundary in CDS

1937

Length of CDS

2019

Coding sequence (CDS) position

307

cDNA position

525

gDNA position

24978

Chromosomal position

89978251

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:

8:89978251C>G_6_ENST00000697304

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 69|31 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

no data

Ensembl transcript ID

ENST00000697304.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.553G>C
g.24978G>C

AA changes

AAE:	E185Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		185	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	R	Q	G
mutated	all conserved	185								L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	R	Q
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVESKKQP PQIERQGLRP IPEAEIGLAV IFMTTKNYCD PQGHPSTGLK TTTPGPSLSQ
GVSVDEKLMP SAPVNTTTYV ADTESEQADT WDLSERPKEI KVSKMEQKFR MLSQDAPTVK
ESCKTSSNNN SMVSNTLAKM RIPNYQLSPT KLPSINKSKD RASQQQQTNS IRNYFQPSTK
KRERDEENQE MSSCKSARIE TSCSLLEQTQ PATPSLWKNK EQHLSENEPV DTNSDNNLFT
DTDLKSIVKN SASKSHAAEK LRSNKKREMD DVAIEDEVLE QLFKDTKPEL EIDVKVQKQE
EDVNVRKRPR MDIETNDTFS DEAVPESSKI SQENEIGKKR ELKEDSLWSA KEISNNDKLQ
DDSEMLPKKL LLTEFRSLVI KNSTSRNPSG INDDYGQLKN FKKFKKVTYP GAGKLPHIIG
GSDLIAHHAR KNTELEEWLR QEMEVQNQHA KEESLADDLF RYNPYLKRRR *

Mutated AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVQSKKQP PQIERQGLRP IPEAEIGLAV IFMTTKNYCD PQGHPSTGLK TTTPGPSLSQ
GVSVDEKLMP SAPVNTTTYV ADTESEQADT WDLSERPKEI KVSKMEQKFR MLSQDAPTVK
ESCKTSSNNN SMVSNTLAKM RIPNYQLSPT KLPSINKSKD RASQQQQTNS IRNYFQPSTK
KRERDEENQE MSSCKSARIE TSCSLLEQTQ PATPSLWKNK EQHLSENEPV DTNSDNNLFT
DTDLKSIVKN SASKSHAAEK LRSNKKREMD DVAIEDEVLE QLFKDTKPEL EIDVKVQKQE
EDVNVRKRPR MDIETNDTFS DEAVPESSKI SQENEIGKKR ELKEDSLWSA KEISNNDKLQ
DDSEMLPKKL LLTEFRSLVI KNSTSRNPSG INDDYGQLKN FKKFKKVTYP GAGKLPHIIG
GSDLIAHHAR KNTELEEWLR QEMEVQNQHA KEESLADDLF RYNPYLKRRR *

Position of stopcodon in wt / mu CDS

1953 / 1953

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

651 / 651

Position of stopcodon in wt / mu cDNA

2063 / 2063

Position of start ATG in wt / mu cDNA

111 / 111

Last intron/exon boundary

2032

Theoretical NMD boundary in CDS

1871

Length of CDS

1953

Coding sequence (CDS) position

553

cDNA position

663

gDNA position

24978

Chromosomal position

89978251

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:

8:89978251C>G_7_ENST00000697307

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 69|31 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

no data

Ensembl transcript ID

ENST00000697307.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.553G>C
g.24978G>C

AA changes

AAE:	E185Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		185	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	185								L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISVTYPG AGKLPHIIGG SDLIAHHARK NTELEEWLRQ EMEVQNQHAK
EESLADDLFR YNPYLKRRR*

Mutated AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVQSKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISVTYPG AGKLPHIIGG SDLIAHHARK NTELEEWLRQ EMEVQNQHAK
EESLADDLFR YNPYLKRRR*

Position of stopcodon in wt / mu CDS

2040 / 2040

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

680 / 680

Position of stopcodon in wt / mu cDNA

2150 / 2150

Position of start ATG in wt / mu cDNA

111 / 111

Last intron/exon boundary

2119

Theoretical NMD boundary in CDS

1958

Length of CDS

2040

Coding sequence (CDS) position

553

cDNA position

663

gDNA position

24978

Chromosomal position

89978251

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:

8:89978251C>G_8_ENST00000697308

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 69|31 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

no data

Ensembl transcript ID

ENST00000697308.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.553G>C
g.24978G>C

AA changes

AAE:	E185Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		185	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	185								L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISNNDKL QDDSEMLPKK LLLTEFRSLV IKNSTSRNPS GINDDYGQLK
NFKKFKKVTY PGAGKLPHII GGSDLIAHHA RKNTELEEWL RQEMEVQNQH AKEESLADDL
FRYNPYLKRR R*

Mutated AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVQSKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISNNDKL QDDSEMLPKK LLLTEFRSLV IKNSTSRNPS GINDDYGQLK
NFKKFKKVTY PGAGKLPHII GGSDLIAHHA RKNTELEEWL RQEMEVQNQH AKEESLADDL
FRYNPYLKRR R*

Position of stopcodon in wt / mu CDS

2196 / 2196

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

732 / 732

Position of stopcodon in wt / mu cDNA

2306 / 2306

Position of start ATG in wt / mu cDNA

111 / 111

Last intron/exon boundary

2275

Theoretical NMD boundary in CDS

2114

Length of CDS

2196

Coding sequence (CDS) position

553

cDNA position

663

gDNA position

24978

Chromosomal position

89978251

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:

8:89978251C>G_11_ENST00000697309

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 69|31 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

no data

Ensembl transcript ID

ENST00000697309.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.553G>C
g.24978G>C

AA changes

AAE:	E185Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		185	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	185								L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR
SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE
EWLRQEMEIQ SLFKKEKITE DFKKKPWKNF LVSIYFRPTR LYEYIVYRSD LSYNVLWPKF
IK*

Mutated AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVQSKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR
SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE
EWLRQEMEIQ SLFKKEKITE DFKKKPWKNF LVSIYFRPTR LYEYIVYRSD LSYNVLWPKF
IK*

Position of stopcodon in wt / mu CDS

2349 / 2349

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

783 / 783

Position of stopcodon in wt / mu cDNA

2459 / 2459

Position of start ATG in wt / mu cDNA

111 / 111

Last intron/exon boundary

2294

Theoretical NMD boundary in CDS

2133

Length of CDS

2349

Coding sequence (CDS) position

553

cDNA position

663

gDNA position

24978

Chromosomal position

89978251

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:

8:89978251C>G_12_ENST00000697310

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 69|31 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

no data

Ensembl transcript ID

ENST00000697310.1

Genbank transcript ID

UniProt / AlphaMissense peptide

NBN_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.553G>C
g.24978G>C

AA changes

AAE:	E185Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		185	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	185								L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
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	754	CHAIN		lost
111	328	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR
SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE
EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL KRRR*

Mutated AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVQSKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR
SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE
EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL KRRR*

Position of stopcodon in wt / mu CDS

2265 / 2265

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

755 / 755

Position of stopcodon in wt / mu cDNA

2386 / 2386

Position of start ATG in wt / mu cDNA

122 / 122

Last intron/exon boundary

2424

Theoretical NMD boundary in CDS

2252

Length of CDS

2265

Coding sequence (CDS) position

553

cDNA position

674

gDNA position

24978

Chromosomal position

89978251

Speed

0.09 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:

8:89978251C>G_9_ENST00000523444

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 70|30 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

LOEUF: NA, LOF (oe): NA, misssense (oe): 1.07, synonymous (oe): 1.54 ? (gnomAD)

Ensembl transcript ID

ENST00000523444.2

Genbank transcript ID

NM_001024688 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.307G>C
g.24978G>C

AA changes

AAE:	E103Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		103	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	103	P	E	Y	F	T	E	F	L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MQNGFSRTLK SGDGITFGVF GSKFRIEYEP LVACSSCLDV SGKTALNQAI LQLGGFTVNN
WTEECTHLVM VSVKVTIKTI CALICGRPIV KPEYFTEFLK AVESKKQPPQ IESFYPPLDE
PSIGSKNVDL SGRQERKQIF KGKTFIFLNA KQHKKLSSAV VFGGGEARLI TEENEEEHNF
FLAPGTCVVD TGITNSQTLI PDCQKKWIQS IMDMLQRQGL RPIPEAEIGL AVIFMTTKNY
CDPQGHPSTG LKTTTPGPSL SQGVSVDEKL MPSAPVNTTT YVADTESEQA DTWDLSERPK
EIKVSKMEQK FRMLSQDAPT VKESCKTSSN NNSMVSNTLA KMRIPNYQLS PTKLPSINKS
KDRASQQQQT NSIRNYFQPS TKKRERDEEN QEMSSCKSAR IETSCSLLEQ TQPATPSLWK
NKEQHLSENE PVDTNSDNNL FTDTDLKSIV KNSASKSHAA EKLRSNKKRE MDDVAIEDEV
LEQLFKDTKP ELEIDVKVQK QEEDVNVRKR PRMDIETNDT FSDEAVPESS KISQENEIGK
KRELKEDSLW SAKEISNNDK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP SGINDDYGQL
KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH ARKNTELEEW LRQEMEVQNQ HAKEESLADD
LFRYNPYLKR RR*

Mutated AA sequence

MQNGFSRTLK SGDGITFGVF GSKFRIEYEP LVACSSCLDV SGKTALNQAI LQLGGFTVNN
WTEECTHLVM VSVKVTIKTI CALICGRPIV KPEYFTEFLK AVQSKKQPPQ IESFYPPLDE
PSIGSKNVDL SGRQERKQIF KGKTFIFLNA KQHKKLSSAV VFGGGEARLI TEENEEEHNF
FLAPGTCVVD TGITNSQTLI PDCQKKWIQS IMDMLQRQGL RPIPEAEIGL AVIFMTTKNY
CDPQGHPSTG LKTTTPGPSL SQGVSVDEKL MPSAPVNTTT YVADTESEQA DTWDLSERPK
EIKVSKMEQK FRMLSQDAPT VKESCKTSSN NNSMVSNTLA KMRIPNYQLS PTKLPSINKS
KDRASQQQQT NSIRNYFQPS TKKRERDEEN QEMSSCKSAR IETSCSLLEQ TQPATPSLWK
NKEQHLSENE PVDTNSDNNL FTDTDLKSIV KNSASKSHAA EKLRSNKKRE MDDVAIEDEV
LEQLFKDTKP ELEIDVKVQK QEEDVNVRKR PRMDIETNDT FSDEAVPESS KISQENEIGK
KRELKEDSLW SAKEISNNDK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP SGINDDYGQL
KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH ARKNTELEEW LRQEMEVQNQ HAKEESLADD
LFRYNPYLKR RR*

Position of stopcodon in wt / mu CDS

2019 / 2019

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

673 / 673

Position of stopcodon in wt / mu cDNA

2478 / 2478

Position of start ATG in wt / mu cDNA

460 / 460

Last intron/exon boundary

2447

Theoretical NMD boundary in CDS

1937

Length of CDS

2019

Coding sequence (CDS) position

307

cDNA position

766

gDNA position

24978

Chromosomal position

89978251

Speed

0.10 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:

8:89978251C>G_10_ENST00000409330

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 79|21 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

LOEUF: 1.01, LOF (oe): 0.80, misssense (oe): 0.97, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000409330.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.307G>C
g.24978G>C

AA changes

AAE:	E103Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		103	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	103	P	E	Y	F	T	E	F	L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MQNGFSRTLK SGDGITFGVF GSKFRIEYEP LVACSSCLDV SGKTALNQAI LQLGGFTVNN
WTEECTHLVM VSVKVTIKTI CALICGRPIV KPEYFTEFLK AVESKKQPPQ IESFYPPLDE
PSIGSKNVDL SGRQERKQIF KGKTFIFLNA KQHKKLSSAV VFGGGEARLI TEENEEEHNF
FLAPGTCVVD TGITNSQTLI PDCQKKWIQS IMDMLQRQGL RPIPEAEIGL AVIFMTTKNY
CDPQGHPSTG LKTTTPGPSL SQGVSVDEKL MPSAPVNTTT YVADTESEQA DTWDLSERPK
EIKVSKMEQK FRMLSQDAPT VKESCKTSSN NNSMVSNTLA KMRIPNYQLS PTKLPSINKS
KDRASQQQQT NSIRNYFQPS TKKRERDEEN QEMSSCKSAR IETSCSLLEQ TQPATPSLWK
NKEQHLSENE PVDTNSDNNL FTDTDLKSIV KNSASKSHAA EKLRSNKKRE MDDVAIEDEV
LEQLFKDTKP ELEIDVKVQK QEEDVNVRKR PRMDIETNDT FSDEAVPESS KISQENEIGK
KRELKEDSLW SAKEISNNDK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP SGINDDYGQL
KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH ARKNTELEEW LRQEMEVQNQ HAKEESLADD
LFRYNPYLKR RR*

Mutated AA sequence

MQNGFSRTLK SGDGITFGVF GSKFRIEYEP LVACSSCLDV SGKTALNQAI LQLGGFTVNN
WTEECTHLVM VSVKVTIKTI CALICGRPIV KPEYFTEFLK AVQSKKQPPQ IESFYPPLDE
PSIGSKNVDL SGRQERKQIF KGKTFIFLNA KQHKKLSSAV VFGGGEARLI TEENEEEHNF
FLAPGTCVVD TGITNSQTLI PDCQKKWIQS IMDMLQRQGL RPIPEAEIGL AVIFMTTKNY
CDPQGHPSTG LKTTTPGPSL SQGVSVDEKL MPSAPVNTTT YVADTESEQA DTWDLSERPK
EIKVSKMEQK FRMLSQDAPT VKESCKTSSN NNSMVSNTLA KMRIPNYQLS PTKLPSINKS
KDRASQQQQT NSIRNYFQPS TKKRERDEEN QEMSSCKSAR IETSCSLLEQ TQPATPSLWK
NKEQHLSENE PVDTNSDNNL FTDTDLKSIV KNSASKSHAA EKLRSNKKRE MDDVAIEDEV
LEQLFKDTKP ELEIDVKVQK QEEDVNVRKR PRMDIETNDT FSDEAVPESS KISQENEIGK
KRELKEDSLW SAKEISNNDK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP SGINDDYGQL
KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH ARKNTELEEW LRQEMEVQNQ HAKEESLADD
LFRYNPYLKR RR*

Position of stopcodon in wt / mu CDS

2019 / 2019

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

673 / 673

Position of stopcodon in wt / mu cDNA

2425 / 2425

Position of start ATG in wt / mu cDNA

407 / 407

Last intron/exon boundary

2394

Theoretical NMD boundary in CDS

1937

Length of CDS

2019

Coding sequence (CDS) position

307

cDNA position

713

gDNA position

24978

Chromosomal position

89978251

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:

8:89978251C>G_13_ENST00000265433

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 83|17 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

LOEUF: 1.06, LOF (oe): 0.85, misssense (oe): 0.99, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000265433.8

Genbank transcript ID

NM_002485 (exact from MANE)

UniProt / AlphaMissense peptide

NBN_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.553G>C
g.24978G>C

AA changes

AAE:	E185Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		185	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	185								L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
Ptroglodytes	all conserved	185								L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
Mmulatta	all conserved	185								L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
Fcatus	all conserved	215								L	K	A	V	K	T	N	K	Q	P	P	Q	I	E	S	F
Mmusculus	all identical	185								L	K	A	V	E	S	K	K	Q	P	P	D	I	E	S	F
Ggallus	all conserved	182								M	K	A	V	Q	S	R	Q	Q	L	P	T	P	E	S	F
Trubripes	all conserved	172								S	R	C	V	Q	Q	K	L	P	P	P	K	A	E	R	F
Drerio	no homologue
Dmelanogaster	all conserved	182	F	P	Y	W	R	K	M	L	Q	A	A	Q	SIHV	K	E	G	W	P	Q	P
Celegans	no homologue
Xtropicalis	all conserved	183								I	N	A	I	Q	Q	K	R	P	L	P	E	Y	R	S	F

Protein features

Start (aa)	End (aa)	Feature	Details
1	754	CHAIN		lost
111	328	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR
SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE
EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL KRRR*

Mutated AA sequence

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
LKAVQSKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR
SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE
EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL KRRR*

Position of stopcodon in wt / mu CDS

2265 / 2265

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

755 / 755

Position of stopcodon in wt / mu cDNA

2371 / 2371

Position of start ATG in wt / mu cDNA

107 / 107

Last intron/exon boundary

2340

Theoretical NMD boundary in CDS

2183

Length of CDS

2265

Coding sequence (CDS) position

553

cDNA position

659

gDNA position

24978

Chromosomal position

89978251

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:

8:89978251C>G_3_ENST00000517337

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 88|12 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr8:89978251C>G (GRCh38)

Gene symbol

NBN

Gene constraints

LOEUF: 1.05, LOF (oe): 0.50, misssense (oe): 1.03, synonymous (oe): 1.14 ? (gnomAD)

Ensembl transcript ID

ENST00000517337.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.307G>C
g.24978G>C

AA changes

AAE:	E103Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		103	P	E	Y	F	T	E	F	L	K	A	V	E	S	K	K	Q	P	P	Q	I	E	S	F	Y
mutated	all conserved	103	P	E	Y	F	T	E	F	L	K	A	V	Q	S	K	K	Q	P	P	Q	I	E	S	F
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.364	1
	2.215	1
(flanking)	3.957	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

8

Strand

-1

Original gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered gDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Original cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCA

Altered cDNA sequence snippet

CTGAATTCCTGAAAGCAGTTCAGTCCAAGAAGCAGCCTCCA

Wildtype AA sequence

MQNGFSRTLK SGDGITFGVF GSKFRIEYEP LVACSSCLDV SGKTALNQAI LQLGGFTVNN
WTEECTHLVM VSVKVTIKTI CALICGRPIV KPEYFTEFLK AVESKKQPPQ IESFYPPLDE
PSIGSKNVDL SGRQERKQIF KGKTFIFLNA KQHKKLSSAV VFGGGEARLI TEENEEEHNF
FLAPGTCVVD TGITNSQTLI PDCQKKWIQS IMDMLQRQGL RPIPEAEIGL AVIFMTTKNY
CDPQGHPSTG LKTTTPGPSL SQGVSVDEKL MPSAPVNTTT YVADTESEQA DTWDLSERPK
EIKVSKMEQK FRMLSQDAPT VKESCKTSSN NNSMVSNTLA KMRIPNYQLS PTKLPSINKS
KDRASQQQQT NSIRNYFQPS TKKRERDEEN QEMSSCKSAR IETSCSLLEQ TQPATPSLWK
NKEQHLSENE PVDTNSDNNL FTDTDLKSIV KNSASKSHAA EKLRSNKKRE MDDVAIEDEV
LEQLFKDTKP ELEIDVKVQK QEEDVNVRKR PRMDIETNDT FSDEAVPESS KISQENEIGK
KRELKEDSLW SAKEISNNDK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP SGINDDYGQL
KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH ARKNTELEEW LRQEMEVQNQ HAKEESLADD
LFRYNPYLKR RR*

Mutated AA sequence

MQNGFSRTLK SGDGITFGVF GSKFRIEYEP LVACSSCLDV SGKTALNQAI LQLGGFTVNN
WTEECTHLVM VSVKVTIKTI CALICGRPIV KPEYFTEFLK AVQSKKQPPQ IESFYPPLDE
PSIGSKNVDL SGRQERKQIF KGKTFIFLNA KQHKKLSSAV VFGGGEARLI TEENEEEHNF
FLAPGTCVVD TGITNSQTLI PDCQKKWIQS IMDMLQRQGL RPIPEAEIGL AVIFMTTKNY
CDPQGHPSTG LKTTTPGPSL SQGVSVDEKL MPSAPVNTTT YVADTESEQA DTWDLSERPK
EIKVSKMEQK FRMLSQDAPT VKESCKTSSN NNSMVSNTLA KMRIPNYQLS PTKLPSINKS
KDRASQQQQT NSIRNYFQPS TKKRERDEEN QEMSSCKSAR IETSCSLLEQ TQPATPSLWK
NKEQHLSENE PVDTNSDNNL FTDTDLKSIV KNSASKSHAA EKLRSNKKRE MDDVAIEDEV
LEQLFKDTKP ELEIDVKVQK QEEDVNVRKR PRMDIETNDT FSDEAVPESS KISQENEIGK
KRELKEDSLW SAKEISNNDK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP SGINDDYGQL
KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH ARKNTELEEW LRQEMEVQNQ HAKEESLADD
LFRYNPYLKR RR*

Position of stopcodon in wt / mu CDS

2019 / 2019

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

673 / 673

Position of stopcodon in wt / mu cDNA

2313 / 2313

Position of start ATG in wt / mu cDNA

295 / 295

Last intron/exon boundary

2282

Theoretical NMD boundary in CDS

1937

Length of CDS

2019

Coding sequence (CDS) position

307

cDNA position

601

gDNA position

24978

Chromosomal position

89978251

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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