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: ENST00000423169
Querying Taster for transcript #2: ENST00000557850
Querying Taster for transcript #3: ENST00000382643
Querying Taster for transcript #4: ENST00000267868
Querying Taster for transcript #5: ENST00000645673
MT speed 0.05 s - this script 2.458513 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
ENST00000423169	RAD51	Benign	0\|100	5utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000557850	RAD51	Benign	0\|100	5utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000382643	RAD51	Benign	0\|100	5utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000267868(MANE Select)	RAD51	Benign	0\|100	5utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000645673	RAD51	Benign	0\|100	5utr	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

15:40695220G>C_1_ENST00000423169

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 5utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr15:40695220G>C (GRCh38)

Gene symbol

RAD51

Gene constraints

LOEUF: 0.59, LOF (oe): 0.38, misssense (oe): 0.54, synonymous (oe): 0.81 ? (gnomAD)

Ensembl transcript ID

ENST00000423169.6

Genbank transcript ID

NM_001164270 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.92G>C
g.447G>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	rs35722406
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	274	4665	4939

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.218	0
	-1.237	0
(flanking)	-2.766	0

?

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

N/A

Chromosome

15

Strand

1

Original gDNA sequence snippet

GCGCAGCGGCCAGAGACCGAGCCCTAAGGAGAGTGCGGCGC

Altered gDNA sequence snippet

GCGCAGCGGCCAGAGACCGACCCCTAAGGAGAGTGCGGCGC

Original cDNA sequence snippet

GCGCAGCGGCCAGAGACCGAGCCCTAAGGAGAGTGCGGCGC

Altered cDNA sequence snippet

GCGCAGCGGCCAGAGACCGACCCCTAAGGAGAGTGCGGCGC

Wildtype AA sequence

MAMQMQLEAN ADTSVEEESF GPQPISRLEQ CGINANDVKK LEEAGFHTVE AVAYAPKKEL
INIKGISEAK ADKILAEAAK LVPMGFTTAT EFHQRRSEII QITTGSKELD KLLQGGIETG
SITEMFGEFR TGKTQICHTL AVTCQLPIDR GGGEGKAMYI DTEGTFRPER LLAVAERYGL
SGSDVLDNVA YARAFNTDHQ TQLLYQASAM MVESRYALLI VDSATALYRT DYSGRGELSA
RQMHLARFLR MLLRLADEIV SEERKRGNQN LQNLRLSLSS *

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

300 / 300

Last intron/exon boundary

1073

Theoretical NMD boundary in CDS

723

Length of CDS

843

Coding sequence (CDS) position

N/A

cDNA position

92

gDNA position

447

Chromosomal position

40695220

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:

15:40695220G>C_2_ENST00000557850

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 5utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr15:40695220G>C (GRCh38)

Gene symbol

RAD51

Gene constraints

LOEUF: 0.61, LOF (oe): 0.38, misssense (oe): 0.54, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000557850.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.49G>C
g.447G>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	rs35722406
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	274	4665	4939

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.218	0
	-1.237	0
(flanking)	-2.766	0

?

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

N/A

Chromosome

15

Strand

1

Original gDNA sequence snippet

GCGCAGCGGCCAGAGACCGAGCCCTAAGGAGAGTGCGGCGC

Altered gDNA sequence snippet

GCGCAGCGGCCAGAGACCGACCCCTAAGGAGAGTGCGGCGC

Original cDNA sequence snippet

GCGCAGCGGCCAGAGACCGAGCCCTAAGGAGAGTGCGGCGC

Altered cDNA sequence snippet

GCGCAGCGGCCAGAGACCGACCCCTAAGGAGAGTGCGGCGC

Wildtype AA sequence

MAMQMQLEAN ADTSVEEESF GPQPISRLEQ CGINANDVKK LEEAGFHTVE AVAYAPKKEL
INIKGISEAK ADKILAVAER YGLSGSDVLD NVAYARAFNT DHQTQLLYQA SAMMVESRYA
LLIVDSATAL YRTDYSGRGE LSARQMHLAR FLRMLLRLAD EFGVAVVITN QVVAQVDGAA
MFAADPKKPI GGNIIAHAST TRLYLRKGRG ETRICKIYDS PCLPEAEAMF AINADGVGDA
KD*

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

257 / 257

Last intron/exon boundary

861

Theoretical NMD boundary in CDS

554

Length of CDS

729

Coding sequence (CDS) position

N/A

cDNA position

49

gDNA position

447

Chromosomal position

40695220

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:

15:40695220G>C_3_ENST00000382643

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 5utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr15:40695220G>C (GRCh38)

Gene symbol

RAD51

Gene constraints

LOEUF: 0.51, LOF (oe): 0.31, misssense (oe): 0.51, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000382643.7

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.47G>C
g.447G>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	rs35722406
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	274	4665	4939

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.218	0
	-1.237	0
(flanking)	-2.766	0

?

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

N/A

Chromosome

15

Strand

1

Original gDNA sequence snippet

GCGCAGCGGCCAGAGACCGAGCCCTAAGGAGAGTGCGGCGC

Altered gDNA sequence snippet

GCGCAGCGGCCAGAGACCGACCCCTAAGGAGAGTGCGGCGC

Original cDNA sequence snippet

GCGCAGCGGCCAGAGACCGAGCCCTAAGGAGAGTGCGGCGC

Altered cDNA sequence snippet

GCGCAGCGGCCAGAGACCGACCCCTAAGGAGAGTGCGGCGC

Wildtype AA sequence

MAMQMQLEAN ADTSVEEESF GPQPISRLEQ CGINANDVKK LEEAGFHTVE AVAYAPKKEL
INIKGISEAK ADKILTESRS VARLECNSVI LVYCTLRLSG SSDSPASASR VVGTTGGIET
GSITEMFGEF RTGKTQICHT LAVTCQLPID RGGGEGKAMY IDTEGTFRPE RLLAVAERYG
LSGSDVLDNV AYARAFNTDH QTQLLYQASA MMVESRYALL IVDSATALYR TDYSGRGELS
ARQMHLARFL RMLLRLADEF GVAVVITNQV VAQVDGAAMF AADPKKPIGG NIIAHASTTR
LYLRKGRGET RICKIYDSPC LPEAEAMFAI NADGVGDAKD *

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

151 / 151

Last intron/exon boundary

1049

Theoretical NMD boundary in CDS

848

Length of CDS

1023

Coding sequence (CDS) position

N/A

cDNA position

47

gDNA position

447

Chromosomal position

40695220

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:

15:40695220G>C_4_ENST00000267868

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 5utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr15:40695220G>C (GRCh38)

Gene symbol

RAD51

Gene constraints

LOEUF: 0.47, LOF (oe): 0.29, misssense (oe): 0.52, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000267868.8

Genbank transcript ID

NM_002875 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.47G>C
g.447G>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	rs35722406
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	274	4665	4939

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.218	0
	-1.237	0
(flanking)	-2.766	0

?

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

N/A

Chromosome

15

Strand

1

Original gDNA sequence snippet

GCGCAGCGGCCAGAGACCGAGCCCTAAGGAGAGTGCGGCGC

Altered gDNA sequence snippet

GCGCAGCGGCCAGAGACCGACCCCTAAGGAGAGTGCGGCGC

Original cDNA sequence snippet

GCGCAGCGGCCAGAGACCGAGCCCTAAGGAGAGTGCGGCGC

Altered cDNA sequence snippet

GCGCAGCGGCCAGAGACCGACCCCTAAGGAGAGTGCGGCGC

Wildtype AA sequence

MAMQMQLEAN ADTSVEEESF GPQPISRLEQ CGINANDVKK LEEAGFHTVE AVAYAPKKEL
INIKGISEAK ADKILAEAAK LVPMGFTTAT EFHQRRSEII QITTGSKELD KLLQGGIETG
SITEMFGEFR TGKTQICHTL AVTCQLPIDR GGGEGKAMYI DTEGTFRPER LLAVAERYGL
SGSDVLDNVA YARAFNTDHQ TQLLYQASAM MVESRYALLI VDSATALYRT DYSGRGELSA
RQMHLARFLR MLLRLADEFG VAVVITNQVV AQVDGAAMFA ADPKKPIGGN IIAHASTTRL
YLRKGRGETR ICKIYDSPCL PEAEAMFAIN ADGVGDAKD*

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

255 / 255

Last intron/exon boundary

1150

Theoretical NMD boundary in CDS

845

Length of CDS

1020

Coding sequence (CDS) position

N/A

cDNA position

47

gDNA position

447

Chromosomal position

40695220

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:

15:40695220G>C_5_ENST00000645673

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 5utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr15:40695220G>C (GRCh38)

Gene symbol

RAD51

Gene constraints

LOEUF: 0.51, LOF (oe): 0.31, misssense (oe): 0.51, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000645673.2

Genbank transcript ID

NM_133487 (by similarity), NM_001164269 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.47G>C
g.447G>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	rs35722406
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	274	4665	4939

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.218	0
	-1.237	0
(flanking)	-2.766	0

?

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

N/A

Chromosome

15

Strand

1

Original gDNA sequence snippet

GCGCAGCGGCCAGAGACCGAGCCCTAAGGAGAGTGCGGCGC

Altered gDNA sequence snippet

GCGCAGCGGCCAGAGACCGACCCCTAAGGAGAGTGCGGCGC

Original cDNA sequence snippet

GCGCAGCGGCCAGAGACCGAGCCCTAAGGAGAGTGCGGCGC

Altered cDNA sequence snippet

GCGCAGCGGCCAGAGACCGACCCCTAAGGAGAGTGCGGCGC

Wildtype AA sequence

MAMQMQLEAN ADTSVEEESF GPQPISRLEQ CGINANDVKK LEEAGFHTVE AVAYAPKKEL
INIKGISEAK ADKILTESRS VARLECNSVI LVYCTLRLSG SSDSPASASR VVGTTGGIET
GSITEMFGEF RTGKTQICHT LAVTCQLPID RGGGEGKAMY IDTEGTFRPE RLLAVAERYG
LSGSDVLDNV AYARAFNTDH QTQLLYQASA MMVESRYALL IVDSATALYR TDYSGRGELS
ARQMHLARFL RMLLRLADEF GVAVVITNQV VAQVDGAAMF AADPKKPIGG NIIAHASTTR
LYLRKGRGET RICKIYDSPC LPEAEAMFAI NADGVGDAKD *

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

255 / 255

Last intron/exon boundary

1153

Theoretical NMD boundary in CDS

848

Length of CDS

1023

Coding sequence (CDS) position

N/A

cDNA position

47

gDNA position

447

Chromosomal position

40695220

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