Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
MET (met proto-oncogene (hepatocyte growth factor ...))
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Unique variants in the MET gene
The variants shown are described using the NM_001127500.1 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Reported
: The number of times this variant has been reported in the database.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Type
: Type of variant at DNA level; note that the variant type can also be derived from the variant description (for all levels).
All options:
Substitution
Deletion
Duplication
Insertion
Inversion
Insertion/Deletion
Translocation
Other/Complex
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Variant remarks
: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
ClassClinical
: ClassClinical
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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93 entries on 1 page. Showing entries 1 - 93.
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Legend
How to query
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
1
01
c.-187-u529A>C
-
-
1 more item
-
GenBank
MET_00043
-
Substitution
-
Qi Ming
./.
1
01
c.-187-u20C>G
-
-
The SNP conversion shows 'g.4981C>G' (c.220C>G), but in the reference sequence, c.220 is G.
-
GenBank
MET_00044
-
Substitution
-
Qi Ming
./.
1
02
c.36dup
-
p.Val13ArgfsX15
-
-
GenBank
MET_00047
NA
Duplication
-
Qi Ming
./.
1
02
c.134A>G
-
p.Asn45Ser
-
-
GenBank
MET_00048
G=0.003/1
Substitution
-
Qi Ming
./.
1
02
c.143C>T
-
p.Ala48Val
-
-
GenBank
MET_00049
NA
Substitution
-
Qi Ming
./.
1
02
c.144G>A
-
p.Ala48Ala
The SNP conversion shows 'g.31824G>A' (c.151G>A), but in the reference sequence, c.151 is C.
-
GenBank
MET_00045
-
Substitution
-
Qi Ming
./.
1
02
c.287del
-
p.Phe96SerfsX25
-
-
GenBank
MET_00050
NA
Deletion
-
Qi Ming
./.
1
02
c.334del
-
p.Trp112GlyfsX9
-
-
GenBank
MET_00051
NA
Deletion
-
Qi Ming
./.
1
02
c.428G>A
-
p.Arg143Gln
-
-
GenBank
MET_00052
NA
Substitution
-
Qi Ming
./.
1
02
c.467C>T
-
p.Ser156Leu
-
-
GenBank
MET_00053
NA
Substitution
-
Qi Ming
./.
1
02
c.485del
-
p.Phe162SerfsX5
-
-
GenBank
MET_00054
NA
Deletion
-
Qi Ming
./.
1
02
c.504G>T
-
p.Glu168Asp
-
-
GenBank
MET_00055
T=0.005/4
Substitution
-
Qi Ming
./.
1
02
c.620dup
-
p.Asp208ArgfsX29
-
-
GenBank
MET_00056
NA
Duplication
-
Qi Ming
./.
1
02
c.632T>G
-
p.Leu211Trp
-
-
GenBank
MET_00057
NA
Substitution
-
Qi Ming
./.
1
02
c.713T>C
-
p.Leu238Ser
-
-
GenBank
MET_00058
NA
Substitution
-
Qi Ming
./.
1
02
c.716C>G
-
p.Pro239Arg
-
-
GenBank
MET_00059
NA
Substitution
-
Qi Ming
./.
1
02
c.822del
-
p.His275ThrfsX4
-
-
GenBank
MET_00060
NA
Deletion
-
Qi Ming
./.
1
02
c.925A>C
-
p.Thr309Pro
-
-
GenBank
MET_00061
NA
Substitution
-
Qi Ming
./.
1
02
c.948A>G
-
p.Ile316Met
-
-
GenBank
MET_00062
G=0.020/7
Substitution
-
Qi Ming
./.
2
02
c.959C>T
-
p.Ala320Val
-
-
GenBank
MET_00026
NA
Substitution
-
Qi Ming
./.
1
02
c.1023del
-
p.Leu342PhefsX42
-
-
GenBank
MET_00063
NA
Deletion
-
Qi Ming
./.
1
02
c.1029_1030insT
-
p.Gly344TrpfsX52
-
-
GenBank
MET_00064
NA
Insertion
-
Qi Ming
./.
1
02
c.1035dup
-
p.Phe346ValfsX50
-
-
GenBank
MET_00065
NA
Duplication
-
Qi Ming
./.
1
02
c.1085T>C
-
p.Met362Thr
-
-
GenBank
MET_00066
C=0.006/8
Substitution
-
Qi Ming
./.
2
02
c.1124A>G
-
p.Asn375Ser
as the frequency of both MET and CDH1 mutations is quite low in Korean gastric cancer patients,
-
GenBank
MET_00035
G=0.032/29
Substitution
-
Qi Ming
./.
1
02
c.1142A>C
-
p.Asn381Thr
-
-
GenBank
MET_00067
NA
Substitution
-
Qi Ming
./.
1
03
c.1204C>A
-
p.Leu402Ile
-
-
GenBank
MET_00068
NA
Substitution
-
Qi Ming
./.
1
03
c.1214delA
-
p.Asn405IlefsX35
-
-
GenBank
MET_00069
NA
Deletion
-
Qi Ming
./.
1
04
c.1484C>T
-
p.Thr495Ile
-
-
GenBank
MET_00070
NA
Substitution
-
Qi Ming
./.
1
05
c.1676A>G
-
p.Gln559Arg
-
-
GenBank
MET_00071
NA
Substitution
-
Qi Ming
./.
1
06
c.1771C>T
-
p.Arg591Trp
-
-
GenBank
MET_00072
NA
Substitution
-
Qi Ming
./.
1
07
c.1898A>T
-
p.His633Leu
-
-
GenBank
MET_00073
NA
Substitution
-
Qi Ming
./.
1
07
c.1931A>G
-
p.His644Arg
-
-
GenBank
MET_00039
-
Substitution
-
Qi Ming
./.
2
07
c.1944A>G
-
p.Gln648Gln
as the frequency of both MET and CDH1 mutations is quite low in Korean gastric cancer patients,
-
GenBank
MET_00027, MET_00036
-
Substitution
-
Qi Ming
./.
1
07
c.1946A>G
-
p.Tyr649Cys
-
-
GenBank
MET_00074
NA
Substitution
-
Qi Ming
./.
1
08
c.1983T>A
-
p.Ser661Arg
-
-
GenBank
MET_00075
NA
Substitution
-
Qi Ming
./.
1
09
c.2192G>A
-
p.Arg731Gln
-
-
GenBank
MET_00076
NA
Substitution
-
Qi Ming
./.
1
09
c.2215C>T
-
p.Arg739Cys
-
-
GenBank
MET_00077
NA
Substitution
-
Qi Ming
./.
1
09
c.2216G>A
-
p.Arg739His
-
-
GenBank
MET_00078
NA
Substitution
-
Qi Ming
./.
1
09
c.2239A>G
-
p.Ile747Val
-
-
GenBank
MET_00079
NA
Substitution
-
Qi Ming
./.
1
09
c.2352_2353insA
-
p.Leu785ThrfsX5
-
-
GenBank
MET_00080
NA
Insertion
-
Qi Ming
./.
1
10
c.2356A>G
-
p.Asn786Asp
-
-
GenBank
MET_00081
NA
Substitution
-
Qi Ming
./.
1
10
c.2372C>T
-
p.Pro791Leu
This is the first report of a MET germline mutation in a patient with familial gastric cancer. How
-
GenBank
MET_00032
-
Substitution
-
Qi Ming
./.
1
11
c.2431C>T
-
p.Arg811Cys
-
-
GenBank
MET_00082
NA
Substitution
-
Qi Ming
./.
1
11
c.2556T>G
-
p.Ile852Met
-
-
GenBank
MET_00083
NA
Substitution
-
Qi Ming
./.
1
11
c.2586dup
-
p.Glu863X
-
-
GenBank
MET_00084
NA
Duplication
-
Qi Ming
./.
1
11
c.2611G>T
-
p.Gly871Cys
-
-
GenBank
MET_00085
NA
Substitution
-
Qi Ming
./.
1
13
c.2821_2822insA
-
p.Val941AspfsX40
-
-
GenBank
MET_00086
NA
Insertion
-
Qi Ming
./.
1
13
c.2851G>A
-
p.Gly951Arg
-
-
GenBank
MET_00087
NA
Substitution
-
Qi Ming
./.
3
14
c.2962C>T
-
p.Arg988Cys
HGF/MET signaling, and secretion of HGFA by DLBCL cells, contributes to lymphomagenesis in DLB,
1 more item
-
GenBank
MET_00038
T=0.005/3
Substitution
-
Qi Ming
./.
1
14
c.2963G>A
-
p.Arg988His
-
-
GenBank
MET_00088
NA
Substitution
-
Qi Ming
./.
1
14
c.2997T>G
-
p.Asp999Glu
-
-
GenBank
MET_00089
NA
Substitution
-
Qi Ming
./.
1
14
c.2999G>T
-
p.Arg1000Met
-
-
GenBank
MET_00090
NA
Substitution
-
Qi Ming
./.
1
14
c.3025C>T
-
p.Pro1009Ser
our results raise the possibility that activating missense Met mutations could contribute to tumor
-
GenBank
MET_00031
-
Substitution
-
Qi Ming
./.
2
14
c.3029C>T
-
p.Thr1010Ile
There is no genetic evidence to support autism association for this rare mutation.
-
GenBank
MET_00016
-
Substitution
-
Qi Ming
./.
1
14
c.3075del
-
p.Pro1026GlnfsX21
-
-
GenBank
MET_00091
NA
Deletion
-
Qi Ming
./.
1
15
c.3119G>A
-
p.Arg1040Gln
-
-
GenBank
MET_00092
NA
Substitution
-
Qi Ming
./.
1
15
c.3145A>G
-
p.Met1049Val
-
-
GenBank
MET_00093
NA
Substitution
-
Qi Ming
./.
1
15
c.3192_3193insT
-
p.Leu1065SerfsX8
-
-
GenBank
MET_00094
NA
Insertion
-
Qi Ming
./.
1
15
c.3212T>C
-
p.Ile1071Thr
-
-
GenBank
MET_00095
NA
Substitution
-
Qi Ming
./.
1
15
c.3214_3215insT
-
p.Asp1072ValfsX22
-
-
GenBank
MET_00096
NA
Insertion
-
Qi Ming
./.
1
15
c.3253C>A
-
p.Gln1085Lys
-
-
GenBank
MET_00097
NA
Substitution
-
Qi Ming
./.
3
16
c.3328G>A
-
p.Val1110Ile
we describe a new mutation in the MET oncogene kinase domain, associated to HPRCC, affecting an ,
1 more item
-
GenBank
MET_00002
-
Substitution
-
Qi Ming
./.
1
16
c.3334C>T
-
p.His1112Tyr
-
-
GenBank
MET_00004
-
Substitution
-
Qi Ming
./.
3
16
c.3335A>G
-
p.His1112Arg
The Identification of the H1112R mutation will facifitate predictive testing in HPRC and guide f,
1 more item
-
GenBank
MET_00001
-
Substitution
-
Qi Ming
./.
1
16
c.3335A>T
-
p.His1112Leu
-
-
GenBank
MET_00003
-
Substitution
-
Qi Ming
./.
1
16
c.3341C>G
-
p.Thr1114Ser
-
-
GenBank
MET_00098
NA
Substitution
-
Qi Ming
./.
1
16
c.3343T>G
-
p.Leu1115Val
-
-
GenBank
MET_00099
NA
Substitution
-
Qi Ming
./.
2
16
c.3370C>G
-
p.His1124Asp
Papillary renal carcinomas (PRC) occur in sporadic and hereditary forms
-
GenBank
MET_00005
-
Substitution
-
Qi Ming
./.
1
17
c.3410G>T
-
p.Gly1137Val
-
-
GenBank
MET_00030
-
Substitution
-
Qi Ming
./.
3
17
c.3446T>C
-
p.Met1149Thr
Papillary renal carcinomas (PRC) occur in sporadic and hereditary forms
-
GenBank
MET_00012
-
Substitution
-
Qi Ming
./.
1
17
c.3497G>A
-
p.Arg1166Gln
HGF/MET signaling, and secretion of HGFA by DLBCL cells, contributes to lymphomagenesis in DLB
-
GenBank
MET_00037
-
Substitution
-
Qi Ming
./.
1
18
c.3592G>A
-
p.Asp1198Asn
-
-
GenBank
MET_00100
NA
Substitution
-
Qi Ming
./.
2
18
c.3616G>C
-
p.Val1206Leu
Papillary renal carcinomas (PRC) occur in sporadic and hereditary forms
-
GenBank
MET_00013
-
Substitution
-
Qi Ming
./.
1
18
c.3616G>T
-
p.Val1206Leu
-
-
GenBank
MET_00018
-
Substitution
-
Qi Ming
./.
1
18
c.3619delG
-
p.Ala1207Profs
-
-
GenBank
MET_00101
NA
Deletion
-
Qi Ming
./.
2
18
c.3637C>G
-
p.Leu1213Val, p.Lys1213Val
somatic mutation
-
GenBank
MET_00007, MET_00022
-
Substitution
-
Qi Ming
./.
2
19
c.3712G>A
-
p.Val1238Ile
-
-
GenBank
MET_00014, MET_00019
-
Substitution
-
Qi Ming
./.
2
19
c.3736G>A
-
p.Asp1246Asn
-
-
GenBank
MET_00015, MET_00020
-
Substitution
-
Qi Ming
./.
2
19
c.3736G>C
-
p.Asp1246His
somatic mutation
-
GenBank
MET_00008, MET_00023
-
Substitution
-
Qi Ming
./.
2
19
c.3742T>C
-
p.Tyr1248His
-
-
GenBank
MET_00009, MET_00024
-
Substitution
-
Qi Ming
./.
2
19
c.3742T>G
-
p.Tyr1248Asp
Papillary renal carcinomas (PRC) occur in sporadic and hereditary forms
-
GenBank
MET_00006, MET_00017
-
Substitution
-
Qi Ming
./.
3
19
c.3743A>G
-
p.Tyr1248Cys
Papillary renal carcinomas (PRC) occur in sporadic and hereditary forms
-
GenBank
MET_00010, MET_00021
-
Substitution
-
Qi Ming
./.
3
19
c.3803T>C
-
p.Met1268Thr
Papillary renal carcinomas (PRC) occur in sporadic and hereditary forms
-
GenBank
MET_00011, MET_00025
-
Substitution
-
Qi Ming
./.
1
19
c.3815G>A
-
p.Ser1272Asn
-
-
GenBank
MET_00102
NA
Substitution
-
Qi Ming
./.
1
19
c.3835A>G
-
p.Thr1279Ala
-
-
GenBank
MET_00103
NA
Substitution
-
Qi Ming
./.
1
19
c.3847G>T
-
p.Asp1283Tyr
-
-
GenBank
MET_00104
NA
Substitution
-
Qi Ming
./.
1
20
c.3902dup
-
p.Tyr1302LeufsX3
-
-
GenBank
MET_00105
NA
Duplication
-
Qi Ming
./.
3
20
c.3912C>T
-
p.Asp1304Asp
as the frequency of both MET and CDH1 mutations is quite low in Korean gastric cancer patients,
-
GenBank
MET_00028, MET_00033, MET_00040
-
Substitution
-
Qi Ming
./.
3
21
c.4071G>A
-
p.Ala1357Ala
as the frequency of both MET and CDH1 mutations is quite low in Korean gastric cancer patients, ,
1 more item
-
GenBank
MET_00034
-
Substitution
-
Qi Ming
./.
1
21
c.4141G>A
-
p.Ala1381Thr
-
-
GenBank
MET_00106
A=0.005/2
Substitution
-
Qi Ming
./.
2
21
c.4146G>A
-
p.Pro1382Pro
1 more item
-
GenBank
MET_00042
-
Substitution
-
Qi Ming
./.
1
00
c.*1326A>G
-
-
-
-
GenBank
MET_00041
-
Substitution
-
Qi Ming
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