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: ENST00000260947
Querying Taster for transcript #2: ENST00000619009
Querying Taster for transcript #3: ENST00000617164
Querying Taster for transcript #4: ENST00000613706
Querying Taster for transcript #5: ENST00000421162
Querying Taster for transcript #6: ENST00000620057
Querying Taster for transcript #7: ENST00000613374
MT speed 0.22 s - this script 2.646138 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000613706	BARD1	Deleterious	134\|66	without_aae	No	Single base exchange	N/A
ENST00000619009	BARD1	Deleterious	150\|50	without_aae	No	Single base exchange	N/A
ENST00000620057	BARD1	Deleterious	151\|49	without_aae	No	Single base exchange	N/A
ENST00000613374	BARD1	Deleterious	158\|42	without_aae	No	Single base exchange	N/A
ENST00000421162	BARD1	Deleterious	163\|37	without_aae	No	Single base exchange	N/A
ENST00000260947(MANE Select)	BARD1	Benign	20\|80	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000617164	BARD1	Benign	35\|65	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

2:214780766G>A_4_ENST00000613706

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 134|66 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:214780766G>A (GRCh38)

Gene symbol

BARD1

Gene constraints

LOEUF: 1.13, LOF (oe): 0.91, misssense (oe): 1.01, synonymous (oe): 1.13 ? (gnomAD)

Ensembl transcript ID

ENST00000613706.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.906+202C>T
g.28918C>T

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	rs587781596
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	32	33

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.027	0
	0.874	0.001
(flanking)	0.396	0.001

?

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

2

Strand

-1

Original gDNA sequence snippet

CTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACATCA

Altered gDNA sequence snippet

CTTCACCACCTTCATGCAAATGTAAAGTTGGTGGTACATCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC SRCTNILREP
VCLGGCEHIF CSNCVSDCIG TGCPVCYTPA WIQDLKINRQ LDSMIQLCSK LRNLLHDNEL
SDLKEDKPRK SLFNDAGNKK NSIKMWFSPR SKKVRYVVSK ASVQTQPAIK KDASAQQDSY
EFVSPSPPAD VSERAKKASA RSGKKQKKKT LAEINQKWNL EAEKEDGEFD SKEESKQKLV
SFCSQPSVIS SPQINGEIDL LASGSLTESE CFGSLTEVSL PLAEQIESPD TKSRNEVVTP
EKGDIPSVEY LLQNGSDPNV KDHAGWTPLH EACNHGHLKV VELLLQHKAL VNTTGYQNDS
PLHDAAKNGH VDIVKLLLSY GASRNAVNIF GLRPVDYTDD ESMKSLLLLP EKNESSSASH
CSVMNTGQRR DGPLVLIGSG LSSEQQKMLS ELAVILKAKK YTEFDSTVTH VVVPGDAVQS
TLKCMLGILN GCWILKFEWV KACLRRKVCE QEEKYEIPEG PRRSRLNREQ LLPKLFDGCY
FYLWGTFKHH PKDNLIKLVT AGGGQILSRK PKPDSDVTQT INTVAYHARP DSDQRFCTQY
IIYEDLCNYH PERVRQGKVW KAPSSWFIDC VMSFELLPLD S*

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

115 / 115

Last intron/exon boundary

1707

Theoretical NMD boundary in CDS

1542

Length of CDS

1926

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

28918

Chromosomal position

214780766

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:

2:214780766G>A_2_ENST00000619009

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 150|50 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:214780766G>A (GRCh38)

Gene symbol

BARD1

Gene constraints

LOEUF: 1.40, LOF (oe): 1.01, misssense (oe): 0.98, synonymous (oe): 1.09 ? (gnomAD)

Ensembl transcript ID

ENST00000619009.5

Genbank transcript ID

NM_001282549 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.364+11531C>T
g.28918C>T

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	rs587781596
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	32	33

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.027	0
	0.874	0.001
(flanking)	0.396	0.001

?

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

2

Strand

-1

Original gDNA sequence snippet

CTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACATCA

Altered gDNA sequence snippet

CTTCACCACCTTCATGCAAATGTAAAGTTGGTGGTACATCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC SRCTNILREP
VCLGGCEHIF CSNCVSDCIG TGCPVCYTPA WIQDLKINRQ LDSMIQLCSK LRNLLHDNEL
SGVKACLRRK VCEQEEKYEI PEGPRRSRLN REQLLPKLFD GCYFYLWGTF KHHPKDNLIK
LVTAGGGQIL SRKPKPDSDV TQTINTVAYH ARPDSDQRFC TQYIIYEDLC NYHPERVRQG
KVWKAPSSWF IDCVMSFELL PLDS*

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

29 / 29

Last intron/exon boundary

490

Theoretical NMD boundary in CDS

411

Length of CDS

795

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

28918

Chromosomal position

214780766

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:

2:214780766G>A_6_ENST00000620057

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 151|49 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:214780766G>A (GRCh38)

Gene symbol

BARD1

Gene constraints

LOEUF: 1.43, LOF (oe): 0.84, misssense (oe): 1.02, synonymous (oe): 1.24 ? (gnomAD)

Ensembl transcript ID

ENST00000620057.4

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.365-11454C>T
g.28918C>T

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	rs587781596
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	32	33

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.027	0
	0.874	0.001
(flanking)	0.396	0.001

?

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

2

Strand

-1

Original gDNA sequence snippet

CTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACATCA

Altered gDNA sequence snippet

CTTCACCACCTTCATGCAAATGTAAAGTTGGTGGTACATCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC SRCTNILREP
VCLGGCEHIF CSNCVSDCIG TGCPVCYTPA WIQDLKINRQ LDSMIQLCSK LRNLLHDNEL
SGRHTFC*

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

74 / 74

Last intron/exon boundary

1124

Theoretical NMD boundary in CDS

1000

Length of CDS

384

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

28918

Chromosomal position

214780766

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:

2:214780766G>A_7_ENST00000613374

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 158|42 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:214780766G>A (GRCh38)

Gene symbol

BARD1

Gene constraints

LOEUF: 1.39, LOF (oe): 1.04, misssense (oe): 1.01, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000613374.5

Genbank transcript ID

NM_001282548 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.159-28211C>T
g.28918C>T

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	rs587781596
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	32	33

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.027	0
	0.874	0.001
(flanking)	0.396	0.001

?

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

2

Strand

-1

Original gDNA sequence snippet

CTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACATCA

Altered gDNA sequence snippet

CTTCACCACCTTCATGCAAATGTAAAGTTGGTGGTACATCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC SRCNIFGLRP
VDYTDDESMK SLLLLPEKNE SSSASHCSVM NTGQRRDGPL VLIGSGLSSE QQKMLSELAV
ILKAKKYTEF DSTVTHVVVP GDAVQSTLKC MLGILNGCWI LKFEWVKACL RRKVCEQEEK
YEIPEGPRRS RLNREQLLPK LFDGCYFYLW GTFKHHPKDN LIKLVTAGGG QILSRKPKPD
SDVTQTINTV AYHARPDSDQ RFCTQYIIYE DLCNYHPERV RQGKVWKAPS SWFIDCVMSF
ELLPLDS*

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

74 / 74

Last intron/exon boundary

664

Theoretical NMD boundary in CDS

540

Length of CDS

924

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

28918

Chromosomal position

214780766

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:

2:214780766G>A_5_ENST00000421162

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 163|37 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:214780766G>A (GRCh38)

Gene symbol

BARD1

Gene constraints

LOEUF: 1.39, LOF (oe): 1.04, misssense (oe): 1.01, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000421162.2

Genbank transcript ID

NM_001282545 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.215+16295C>T
g.28918C>T

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	rs587781596
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	32	33

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.027	0
	0.874	0.001
(flanking)	0.396	0.001

?

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

2

Strand

-1

Original gDNA sequence snippet

CTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACATCA

Altered gDNA sequence snippet

CTTCACCACCTTCATGCAAATGTAAAGTTGGTGGTACATCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC SRCTNILREP
VCLGGCEHIF CSNIFGLRPV DYTDDESMKS LLLLPEKNES SSASHCSVMN TGQRRDGPLV
LIGSGLSSEQ QKMLSELAVI LKAKKYTEFD STVTHVVVPG DAVQSTLKCM LGILNGCWIL
KFEWVKACLR RKVCEQEEKY EIPEGPRRSR LNREQLLPKL FDGCYFYLWG TFKHHPKDNL
IKLVTAGGGQ ILSRKPKPDS DVTQTINTVA YHARPDSDQR FCTQYIIYED LCNYHPERVR
QGKVWKAPSS WFIDCVMSFE LLPLDS*

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

29 / 29

Last intron/exon boundary

676

Theoretical NMD boundary in CDS

597

Length of CDS

981

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

28918

Chromosomal position

214780766

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:

2:214780766G>A_1_ENST00000260947

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 20|80 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:214780766G>A (GRCh38)

Gene symbol

BARD1

Gene constraints

LOEUF: 1.09, LOF (oe): 0.88, misssense (oe): 1.01, synonymous (oe): 1.10 ? (gnomAD)

Ensembl transcript ID

ENST00000260947.9

Genbank transcript ID

NM_000465 (exact from MANE)

UniProt / AlphaMissense peptide

BARD1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1108C>T
g.28918C>T

AA changes

AAE:	R370C	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs587781596
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	32	33

Protein conservation

Species	Match	AA	Alignment
Human		370	L	P	E	C	S	S	P	P	S	C	K	R	K	V	G	G	T	S	G	R	K	N	S	N
mutated	not conserved	370			E	C	S	S	P	P	S	C	K	C	K	V	G	G	T	S	G	R	K	N	S
Ptroglodytes	all identical	370			E	C	S	S	P	P	S	C	K	R	K	V	G	G	T	S	G	R	K	N	S
Mmulatta	all identical	370			E	C	S	S	P	P	S	C	K	R	K	V	G	G	T	S	G	R	K	K	S
Fcatus	all identical	364							P	P	P	S	K	R	K	V	G	D	T	L	R	R	K	N	S
Mmusculus	not conserved	358											Q	L	Q	V	D	V	T	L	R	R	K	-	S
Ggallus	all conserved	368	I	P	Q	V	T	E	P	R	T	P	V	Q	V	C	G	S	A	M	K	T	R	S	S
Trubripes	all conserved	390	N	P	P	S	S	A	S	P	G	CD	K	K	K	I	-	-	Y	S	G	R	Q	Q	C
Drerio	no homologue
Dmelanogaster	no alignment	n/a
Celegans	no alignment	n/a
Xtropicalis	all conserved	348	T	A	Q	C	D	AKMCSTP	P	P	H	A	K	Q	K	N	G	G	K	S

Protein features

Start (aa)	End (aa)	Feature	Details
1	777	CHAIN		lost
356	404	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.027	0
	0.874	0.001
(flanking)	0.396	0.001

?

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

2

Strand

-1

Original gDNA sequence snippet

CTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACATCA

Altered gDNA sequence snippet

CTTCACCACCTTCATGCAAATGTAAAGTTGGTGGTACATCA

Original cDNA sequence snippet

CTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACATCA

Altered cDNA sequence snippet

CTTCACCACCTTCATGCAAATGTAAAGTTGGTGGTACATCA

Wildtype AA sequence

MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC SRCTNILREP
VCLGGCEHIF CSNCVSDCIG TGCPVCYTPA WIQDLKINRQ LDSMIQLCSK LRNLLHDNEL
SDLKEDKPRK SLFNDAGNKK NSIKMWFSPR SKKVRYVVSK ASVQTQPAIK KDASAQQDSY
EFVSPSPPAD VSERAKKASA RSGKKQKKKT LAEINQKWNL EAEKEDGEFD SKEESKQKLV
SFCSQPSVIS SPQINGEIDL LASGSLTESE CFGSLTEVSL PLAEQIESPD TKSRNEVVTP
EKVCKNYLTS KKSLPLENNG KRGHHNRLSS PISKRCRTSI LSTSGDFVKQ TVPSENIPLP
ECSSPPSCKR KVGGTSGRKN SNMSDEFISL SPGTPPSTLS SSSYRRVMSS PSAMKLLPNM
AVKRNHRGET LLHIASIKGD IPSVEYLLQN GSDPNVKDHA GWTPLHEACN HGHLKVVELL
LQHKALVNTT GYQNDSPLHD AAKNGHVDIV KLLLSYGASR NAVNIFGLRP VDYTDDESMK
SLLLLPEKNE SSSASHCSVM NTGQRRDGPL VLIGSGLSSE QQKMLSELAV ILKAKKYTEF
DSTVTHVVVP GDAVQSTLKC MLGILNGCWI LKFEWVKACL RRKVCEQEEK YEIPEGPRRS
RLNREQLLPK LFDGCYFYLW GTFKHHPKDN LIKLVTAGGG QILSRKPKPD SDVTQTINTV
AYHARPDSDQ RFCTQYIIYE DLCNYHPERV RQGKVWKAPS SWFIDCVMSF ELLPLDS*

Mutated AA sequence

MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC SRCTNILREP
VCLGGCEHIF CSNCVSDCIG TGCPVCYTPA WIQDLKINRQ LDSMIQLCSK LRNLLHDNEL
SDLKEDKPRK SLFNDAGNKK NSIKMWFSPR SKKVRYVVSK ASVQTQPAIK KDASAQQDSY
EFVSPSPPAD VSERAKKASA RSGKKQKKKT LAEINQKWNL EAEKEDGEFD SKEESKQKLV
SFCSQPSVIS SPQINGEIDL LASGSLTESE CFGSLTEVSL PLAEQIESPD TKSRNEVVTP
EKVCKNYLTS KKSLPLENNG KRGHHNRLSS PISKRCRTSI LSTSGDFVKQ TVPSENIPLP
ECSSPPSCKC KVGGTSGRKN SNMSDEFISL SPGTPPSTLS SSSYRRVMSS PSAMKLLPNM
AVKRNHRGET LLHIASIKGD IPSVEYLLQN GSDPNVKDHA GWTPLHEACN HGHLKVVELL
LQHKALVNTT GYQNDSPLHD AAKNGHVDIV KLLLSYGASR NAVNIFGLRP VDYTDDESMK
SLLLLPEKNE SSSASHCSVM NTGQRRDGPL VLIGSGLSSE QQKMLSELAV ILKAKKYTEF
DSTVTHVVVP GDAVQSTLKC MLGILNGCWI LKFEWVKACL RRKVCEQEEK YEIPEGPRRS
RLNREQLLPK LFDGCYFYLW GTFKHHPKDN LIKLVTAGGG QILSRKPKPD SDVTQTINTV
AYHARPDSDQ RFCTQYIIYE DLCNYHPERV RQGKVWKAPS SWFIDCVMSF ELLPLDS*

Position of stopcodon in wt / mu CDS

2334 / 2334

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

778 / 778

Position of stopcodon in wt / mu cDNA

2448 / 2448

Position of start ATG in wt / mu cDNA

115 / 115

Last intron/exon boundary

2115

Theoretical NMD boundary in CDS

1950

Length of CDS

2334

Coding sequence (CDS) position

1108

cDNA position

1222

gDNA position

28918

Chromosomal position

214780766

Speed

0.07 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

2:214780766G>A_3_ENST00000617164

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 35|65 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:214780766G>A (GRCh38)

Gene symbol

BARD1

Gene constraints

LOEUF: 1.09, LOF (oe): 0.88, misssense (oe): 1.01, synonymous (oe): 1.11 ? (gnomAD)

Ensembl transcript ID

ENST00000617164.5

Genbank transcript ID

NM_001282543 (by similarity)

UniProt / AlphaMissense peptide

BARD1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1051C>T
g.28918C>T

AA changes

AAE:	R351C	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs587781596
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	32	33

Protein conservation

Species	Match	AA	Alignment
Human		351	L	P	E	C	S	S	P	P	S	C	K	R	K	V	G	G	T	S	G	R	K	N	S	N
mutated	not conserved	351	L	P	E	C	S	S	P	P	S	C	K	C	K	V	G	G	T	S	G	R	K
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	777	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.027	0
	0.874	0.001
(flanking)	0.396	0.001

?

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

2

Strand

-1

Original gDNA sequence snippet

CTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACATCA

Altered gDNA sequence snippet

CTTCACCACCTTCATGCAAATGTAAAGTTGGTGGTACATCA

Original cDNA sequence snippet

CTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACATCA

Altered cDNA sequence snippet

CTTCACCACCTTCATGCAAATGTAAAGTTGGTGGTACATCA

Wildtype AA sequence

MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC SRCNCVSDCI
GTGCPVCYTP AWIQDLKINR QLDSMIQLCS KLRNLLHDNE LSDLKEDKPR KSLFNDAGNK
KNSIKMWFSP RSKKVRYVVS KASVQTQPAI KKDASAQQDS YEFVSPSPPA DVSERAKKAS
ARSGKKQKKK TLAEINQKWN LEAEKEDGEF DSKEESKQKL VSFCSQPSVI SSPQINGEID
LLASGSLTES ECFGSLTEVS LPLAEQIESP DTKSRNEVVT PEKVCKNYLT SKKSLPLENN
GKRGHHNRLS SPISKRCRTS ILSTSGDFVK QTVPSENIPL PECSSPPSCK RKVGGTSGRK
NSNMSDEFIS LSPGTPPSTL SSSSYRRVMS SPSAMKLLPN MAVKRNHRGE TLLHIASIKG
DIPSVEYLLQ NGSDPNVKDH AGWTPLHEAC NHGHLKVVEL LLQHKALVNT TGYQNDSPLH
DAAKNGHVDI VKLLLSYGAS RNAVNIFGLR PVDYTDDESM KSLLLLPEKN ESSSASHCSV
MNTGQRRDGP LVLIGSGLSS EQQKMLSELA VILKAKKYTE FDSTVTHVVV PGDAVQSTLK
CMLGILNGCW ILKFEWVKAC LRRKVCEQEE KYEIPEGPRR SRLNREQLLP KLFDGCYFYL
WGTFKHHPKD NLIKLVTAGG GQILSRKPKP DSDVTQTINT VAYHARPDSD QRFCTQYIIY
EDLCNYHPER VRQGKVWKAP SSWFIDCVMS FELLPLDS*

Mutated AA sequence

MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC SRCNCVSDCI
GTGCPVCYTP AWIQDLKINR QLDSMIQLCS KLRNLLHDNE LSDLKEDKPR KSLFNDAGNK
KNSIKMWFSP RSKKVRYVVS KASVQTQPAI KKDASAQQDS YEFVSPSPPA DVSERAKKAS
ARSGKKQKKK TLAEINQKWN LEAEKEDGEF DSKEESKQKL VSFCSQPSVI SSPQINGEID
LLASGSLTES ECFGSLTEVS LPLAEQIESP DTKSRNEVVT PEKVCKNYLT SKKSLPLENN
GKRGHHNRLS SPISKRCRTS ILSTSGDFVK QTVPSENIPL PECSSPPSCK CKVGGTSGRK
NSNMSDEFIS LSPGTPPSTL SSSSYRRVMS SPSAMKLLPN MAVKRNHRGE TLLHIASIKG
DIPSVEYLLQ NGSDPNVKDH AGWTPLHEAC NHGHLKVVEL LLQHKALVNT TGYQNDSPLH
DAAKNGHVDI VKLLLSYGAS RNAVNIFGLR PVDYTDDESM KSLLLLPEKN ESSSASHCSV
MNTGQRRDGP LVLIGSGLSS EQQKMLSELA VILKAKKYTE FDSTVTHVVV PGDAVQSTLK
CMLGILNGCW ILKFEWVKAC LRRKVCEQEE KYEIPEGPRR SRLNREQLLP KLFDGCYFYL
WGTFKHHPKD NLIKLVTAGG GQILSRKPKP DSDVTQTINT VAYHARPDSD QRFCTQYIIY
EDLCNYHPER VRQGKVWKAP SSWFIDCVMS FELLPLDS*

Position of stopcodon in wt / mu CDS

2277 / 2277

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

759 / 759

Position of stopcodon in wt / mu cDNA

2350 / 2350

Position of start ATG in wt / mu cDNA

74 / 74

Last intron/exon boundary

2017

Theoretical NMD boundary in CDS

1893

Length of CDS

2277

Coding sequence (CDS) position

1051

cDNA position

1124

gDNA position

28918

Chromosomal position

214780766

Speed

0.07 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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