MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000341049
Querying Taster for transcript #2: ENST00000405348
Querying Taster for transcript #3: ENST00000393467
MT speed 1.13 s - this script 3.496709 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000341049(MANE Select)	CAV1	Benign	4\|96	3utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000405348	CAV1	Benign	6\|94	3utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000393467	CAV1	Benign	6\|94	3utr	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

7:116560326G>A_1_ENST00000341049

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 3utr
Tree vote: 4|96 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:116560326G>A (GRCh38)

Gene symbol

CAV1

Gene constraints

LOEUF: 0.97, LOF (oe): 0.57, misssense (oe): 0.86, synonymous (oe): 0.83 ? (gnomAD)

Ensembl transcript ID

ENST00000341049.7

Genbank transcript ID

NM_001753 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1603G>A
g.35333G>A

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	rs1049334
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	727	11755	12482

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.354	0
	0.142	0.035
(flanking)	3.289	0.998

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

polyA signal ok

AA sequence altered

N/A

Chromosome

7

Strand

1

Original gDNA sequence snippet

ATCCAAACTAATCCATCACCGGGGTGGTTTAGTGGCTCAAC

Altered gDNA sequence snippet

ATCCAAACTAATCCATCACCAGGGTGGTTTAGTGGCTCAAC

Original cDNA sequence snippet

ATCCAAACTAATCCATCACCGGGGTGGTTTAGTGGCTCAAC

Altered cDNA sequence snippet

ATCCAAACTAATCCATCACCAGGGTGGTTTAGTGGCTCAAC

Wildtype AA sequence

MSGGKYVDSE GHLYTVPIRE QGNIYKPNNK AMADELSEKQ VYDAHTKEID LVNRDPKHLN
DDVVKIDFED VIAEPEGTHS FDGIWKASFT TFTVTKYWFY RLLSALFGIP MALIWGIYFA
ILSFLHIWAV VPCIKSFLIE IQCISRVYSI YVHTVCDPLF EAVGKIFSNV RINLQKEI*

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

28 / 28

Last intron/exon boundary

222

Theoretical NMD boundary in CDS

144

Length of CDS

537

Coding sequence (CDS) position

N/A

cDNA position

1603

gDNA position

35333

Chromosomal position

116560326

Speed

0.43 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:

7:116560326G>A_2_ENST00000405348

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 3utr
Tree vote: 6|94 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:116560326G>A (GRCh38)

Gene symbol

CAV1

Gene constraints

LOEUF: 0.64, LOF (oe): 0.24, misssense (oe): 0.83, synonymous (oe): 0.80 ? (gnomAD)

Ensembl transcript ID

ENST00000405348.6

Genbank transcript ID

NM_001172895 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1799G>A
g.35333G>A

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	rs1049334
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	727	11755	12482

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.354	0
	0.142	0.035
(flanking)	3.289	0.998

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

polyA signal ok

AA sequence altered

N/A

Chromosome

7

Strand

1

Original gDNA sequence snippet

ATCCAAACTAATCCATCACCGGGGTGGTTTAGTGGCTCAAC

Altered gDNA sequence snippet

ATCCAAACTAATCCATCACCAGGGTGGTTTAGTGGCTCAAC

Original cDNA sequence snippet

ATCCAAACTAATCCATCACCGGGGTGGTTTAGTGGCTCAAC

Altered cDNA sequence snippet

ATCCAAACTAATCCATCACCAGGGTGGTTTAGTGGCTCAAC

Wildtype AA sequence

MADELSEKQV YDAHTKEIDL VNRDPKHLND DVVKIDFEDV IAEPEGTHSF DGIWKASFTT
FTVTKYWFYR LLSALFGIPM ALIWGIYFAI LSFLHIWAVV PCIKSFLIEI QCISRVYSIY
VHTVCDPLFE AVGKIFSNVR INLQKEI*

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

317 / 317

Last intron/exon boundary

418

Theoretical NMD boundary in CDS

51

Length of CDS

444

Coding sequence (CDS) position

N/A

cDNA position

1799

gDNA position

35333

Chromosomal position

116560326

Speed

0.36 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:

7:116560326G>A_3_ENST00000393467

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 3utr
Tree vote: 6|94 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr7:116560326G>A (GRCh38)

Gene symbol

CAV1

Gene constraints

LOEUF: 0.64, LOF (oe): 0.24, misssense (oe): 0.83, synonymous (oe): 0.80 ? (gnomAD)

Ensembl transcript ID

ENST00000393467.1

Genbank transcript ID

NM_001172896 (by similarity), NM_001172897 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1778G>A
g.35333G>A

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	rs1049334
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	727	11755	12482

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.354	0
	0.142	0.035
(flanking)	3.289	0.998

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

polyA signal ok

AA sequence altered

N/A

Chromosome

7

Strand

1

Original gDNA sequence snippet

ATCCAAACTAATCCATCACCGGGGTGGTTTAGTGGCTCAAC

Altered gDNA sequence snippet

ATCCAAACTAATCCATCACCAGGGTGGTTTAGTGGCTCAAC

Original cDNA sequence snippet

ATCCAAACTAATCCATCACCGGGGTGGTTTAGTGGCTCAAC

Altered cDNA sequence snippet

ATCCAAACTAATCCATCACCAGGGTGGTTTAGTGGCTCAAC

Wildtype AA sequence

MADELSEKQV YDAHTKEIDL VNRDPKHLND DVVKIDFEDV IAEPEGTHSF DGIWKASFTT
FTVTKYWFYR LLSALFGIPM ALIWGIYFAI LSFLHIWAVV PCIKSFLIEI QCISRVYSIY
VHTVCDPLFE AVGKIFSNVR INLQKEI*

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

296 / 296

Last intron/exon boundary

397

Theoretical NMD boundary in CDS

51

Length of CDS

444

Coding sequence (CDS) position

N/A

cDNA position

1778

gDNA position

35333

Chromosomal position

116560326

Speed

0.34 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