chr7:116411990:C>T Detail (hg19) (MET)

Information

Genome

Assembly Position
hg19 chr7:116,411,990-116,411,990
hg38 chr7:116,771,936-116,771,936 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127500.2:c.3029C>T NP_001120972.1:p.Thr1010Ile
NM_000245.3:c.2975C>T NP_000236.2:p.Thr992Ile
NM_001324402.1:c.2975C>T NP_001311331.1:p.Thr992Ile
Summary

MGeND

Clinical significance Benign
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 164860 OMIM
HGNC 7029 HGNC
Ensembl ENSG00000105976 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM707 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign 2020/04/20 sigmoid colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 malignant neoplasm of rectum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 extrahepatic bile duct not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-03-17 criteria provided, multiple submitters, no conflicts Papillary renal cell carcinoma type 1 germline unknown Detail
Conflicting interpretations of pathogenicity 2020-07-20 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2015-03-03 criteria provided, single submitter germline Detail
Likely pathogenic 2016-05-13 no assertion criteria provided carcinoma somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided Neoplasm somatic Detail
Benign 2024-02-01 criteria provided, single submitter renal cell carcinoma germline Detail
Uncertain significance 2021-10-01 criteria provided, single submitter Classic Hodgkin lymphoma somatic Detail
Benign 2023-06-15 criteria provided, single submitter MET-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.009 Mammary Neoplasms All mutations were mutually exclusive, apart from one basal-like breast tumour w... BeFree 24318467 Detail
0.171 Mammary Neoplasms All mutations were mutually exclusive, apart from one basal-like breast tumour w... BeFree 24318467 Detail
<0.001 Anaplastic carcinoma Three (6%) of the 53 papillary, 2 (10%) of the 21 follicular, 1 (8%) of the 13 m... BeFree 15767811 Detail
0.009 breast carcinoma The HGF growth factor receptor MET is potentially functionally altered due to an... BeFree 25605252 Detail
0.001 Carcinoma breast stage IV The HGF growth factor receptor MET is potentially functionally altered due to an... BeFree 25605252 Detail
0.004 Malignant neoplasm of breast The HGF growth factor receptor MET is potentially functionally altered due to an... BeFree 25605252 Detail
0.009 breast carcinoma Functional consequence of the MET-T1010I polymorphism in breast cancer. BeFree 25605252 Detail
0.023 breast carcinoma The HGF growth factor receptor MET is potentially functionally altered due to an... BeFree 25605252 Detail
0.066 Malignant neoplasm of breast The HGF growth factor receptor MET is potentially functionally altered due to an... BeFree 25605252 Detail
0.001 Thyroid carcinoma A missense MET sequence alteration T1010I, located in exon 14 encoding for the j... BeFree 15767811 Detail
0.001 Carcinoma breast stage IV The HGF growth factor receptor MET is potentially functionally altered due to an... BeFree 25605252 Detail
<0.001 Carcinoma breast stage IV The HGF growth factor receptor MET is potentially functionally altered due to an... BeFree 25605252 Detail
<0.001 Carcinoma breast stage IV The HGF growth factor receptor MET is potentially functionally altered due to an... BeFree 25605252 Detail
0.091 Malignant neoplasm of breast The HGF growth factor receptor MET is potentially functionally altered due to an... BeFree 25605252 Detail
0.089 Malignant neoplasm of breast Functional consequence of the MET-T1010I polymorphism in breast cancer. BeFree 25605252 Detail
0.004 breast carcinoma The HGF growth factor receptor MET is potentially functionally altered due to an... BeFree 25605252 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND not provided ClinVar Detail
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND not specified ClinVar Detail
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND Congenital diaphragmatic hernia ClinVar Detail
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND Carcinoma ClinVar Detail
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND Neoplasm ClinVar Detail
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND Renal cell carcinoma ClinVar Detail
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND Classic Hodgkin lymphoma ClinVar Detail
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND MET-related disorder ClinVar Detail
All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutat... DisGeNET Detail
All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutat... DisGeNET Detail
Three (6%) of the 53 papillary, 2 (10%) of the 21 follicular, 1 (8%) of the 13 medullary, and none o... DisGeNET Detail
The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline s... DisGeNET Detail
The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline s... DisGeNET Detail
The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline s... DisGeNET Detail
Functional consequence of the MET-T1010I polymorphism in breast cancer. DisGeNET Detail
The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline s... DisGeNET Detail
The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline s... DisGeNET Detail
A missense MET sequence alteration T1010I, located in exon 14 encoding for the juxtamembrane domain ... DisGeNET Detail
The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline s... DisGeNET Detail
The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline s... DisGeNET Detail
The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline s... DisGeNET Detail
The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline s... DisGeNET Detail
Functional consequence of the MET-T1010I polymorphism in breast cancer. DisGeNET Detail
The HGF growth factor receptor MET is potentially functionally altered due to an uncommon germline s... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs56391007 dbSNP
Genome
hg19
Position
chr7:116,411,990-116,411,990
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8566
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120338
Allele Counts in All Race (ExAC)
954
Heterozygous Counts in All Race (ExAC)
942
Homozygous Counts in All Race (ExAC)
6
Allele Frequency in All Race (ExAC)
0.007927670395053932
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