NM_000245.4(MET):c.2975C>T (p.Thr992Ile)Rat Genome Database

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Variant : CV50063 (NM_000245.4(MET):c.2975C>T (p.Thr992Ile)) Homo sapiens

Symbol: CV50063
Name: NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
RGD ID: 8604769
Condition: Carcinoma [RCV000421063]|Congenital diaphragmatic hernia [RCV000203290]|Hereditary cancer-predisposing syndrome [RCV000163261]|Neoplasm [RCV000431770]|Renal cell carcinoma [RCV001507182]|Renal cell carcinoma, papillary, 1 [RCV000123120]|none provided [RCV001282236]|not provided [RCV000034529]|not specified [RCV000121340]
Clinical Significance: likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
Last Evaluated: 07/18/2019
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided|no assertion provided|not classified by submitter
Related Genes: MET  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only|reference population|research
HGVS Name(s): NP_001120972.1:p.Thr1010Ile
NP_001120972.1:p.Thr1010Ile
NG_008996.1:g.104532C>T
NC_000007.14:g.116771936C>T
NC_000007.13:g.116411990C>T
NP_000236.2:p.Thr992Ile
p.T1010I
LRG_662:g.104532C>T
NM_000245.2:c.2975C>T
NM_001127500.1:c.3029C>T
LRG_662p1:p.Thr1010Ile
NM_001127500.3:c.3029C>T
NP_001311331.1:p.Thr562Ile
NM_001324402.2:c.1685C>T
NM_000245.4:c.2975C>T
NM_001127500.2:c.3029C>T
LRG_662t1:c.3029C>T
NP_001120972.1:p.Thr1010Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh387116,771,936 - 116,771,936CLINVAR
GRCh377116,411,990 - 116,411,990CLINVAR
Cytogenetic Map77q31.2CLINVAR
Trait Synonyms: Agenesis of hemidiaphragm; AllHighlyPenetrant; Cancer predisposition; Congenital diaphragmatic defect; DIH; Hereditary Cancer Syndrome; Hypernephroma; Neoplasia; Neoplastic Syndromes, Hereditary; Oncological abnormality; Oncology; Renal adenocarcinoma; Renal cell carcinoma (disease); Renal cell carcinoma 1; RENAL CELL CARCINOMA, PAPILLARY, 1, SOMATIC; Renal cell carcinoma, somatic; Tumor; Tumor predisposition; Tumour; Unilateral agenesis of diaphragm
Age Of Onset: adulthood|neonatal
Prevalence: 1-5 / 10 000



Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:1104268   PMID:14559814   PMID:17483355   PMID:21970370   PMID:22703879   PMID:23806086   PMID:24088041   PMID:24728327   PMID:25605252   PMID:25736269   PMID:25741868   PMID:25859546  
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000034529 CLINVAR
  RCV000121340 CLINVAR
  RCV000123120 CLINVAR
  RCV000163261 CLINVAR
  RCV000203290 CLINVAR
  RCV000421063 CLINVAR
  RCV000431770 CLINVAR
  RCV001282236 CLINVAR
  RCV001507182 CLINVAR
dbSNP (RS) rs56391007 CLINVAR
MedGen C0007097 CLINVAR
  C0007134 CLINVAR
  C0027651 CLINVAR
  C0027672 CLINVAR
  C0235833 CLINVAR
  C1336839 CLINVAR
  CN169374 CLINVAR
  CN235283 CLINVAR
  CN517202 CLINVAR
NCBI Gene MET CLINVAR
OMIM 142340 CLINVAR
  164860 CLINVAR
  605074 CLINVAR
SNOMED CT 108369006 CLINVAR
  41607009 CLINVAR
  699346009 CLINVAR