chr7:116777410:A>G Detail (hg38) (MET)

Information

Genome

Assembly Position
hg19 chr7:116,417,464-116,417,464 View the variant detail on this assembly version.
hg38 chr7:116,777,410-116,777,410

HGVS

Type Transcript Protein
RefSeq NM_001127500.2:c.3335A>G NP_001120972.1:p.His1112Arg
NM_000245.3:c.3281A>G NP_000236.2:p.His1094Arg
NM_001324402.1:c.3281A>G NP_001311331.1:p.His1094Arg
Summary

MGeND

Clinical significance
Variant entry
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 Pathogenic
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 COSM703 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1998-09-01 no assertion criteria provided Papillary renal cell carcinoma type 1 germline Detail
Pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2015-07-14 no assertion criteria provided renal carcinoma somatic Detail
Pathogenic 2023-07-10 criteria provided, single submitter renal cell carcinoma germline Detail
Pathogenic 2020-09-01 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-05-25 criteria provided, single submitter MET-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 hereditary renal cell carcinoma Two were known as MET germ-line mutations (H1112R and Y1248C), which predispose ... BeFree 12460923 Detail
0.253 renal cell carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000245.4(MET):c.3281A>G (p.His1094Arg) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_000245.4(MET):c.3281A>G (p.His1094Arg) AND not provided ClinVar Detail
NM_000245.4(MET):c.3281A>G (p.His1094Arg) AND Renal carcinoma ClinVar Detail
NM_000245.4(MET):c.3281A>G (p.His1094Arg) AND Renal cell carcinoma ClinVar Detail
NM_000245.4(MET):c.3281A>G (p.His1094Arg) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000245.4(MET):c.3281A>G (p.His1094Arg) AND MET-related disorder ClinVar Detail
Two were known as MET germ-line mutations (H1112R and Y1248C), which predispose to hereditary renal ... DisGeNET Detail
NA 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
rs121913243 dbSNP
Genome
hg38
Position
chr7:116,777,410-116,777,410
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8610
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)
120702
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4854600586568575E-5
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