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NM_000245.4(MET):c.2318C>T (p.Pro773Leu) AND MET-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 19, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004745408.1

Allele description [Variation Report for NM_000245.4(MET):c.2318C>T (p.Pro773Leu)]

NM_000245.4(MET):c.2318C>T (p.Pro773Leu)

Gene:
MET:MET proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
HGVS:
  • NC_000007.14:g.116759444C>T
  • NG_008996.1:g.92040C>T
  • NM_000245.4:c.2318C>TMANE SELECT
  • NM_001127500.3:c.2372C>T
  • NM_001324401.3:c.2318C>T
  • NM_001324402.2:c.1028C>T
  • NP_000236.2:p.Pro773Leu
  • NP_001120972.1:p.Pro791Leu
  • NP_001311330.1:p.Pro773Leu
  • NP_001311331.1:p.Pro343Leu
  • LRG_662t1:c.2372C>T
  • LRG_662:g.92040C>T
  • NC_000007.13:g.116399498C>T
  • NM_001127500.1:c.2372C>T
  • NM_001127500.2:c.2372C>T
Protein change:
P343L
Links:
dbSNP: rs771333219
NCBI 1000 Genomes Browser:
rs771333219
Molecular consequence:
  • NM_000245.4:c.2318C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127500.3:c.2372C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324401.3:c.2318C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324402.2:c.1028C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MET-related disorder
Synonyms:
MET-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005349369PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jun 19, 2024)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005349369.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MET c.2372C>T variant is predicted to result in the amino acid substitution p.Pro791Leu. This variant has been reported in an individual with a personal and family history of gastric cancer (Figure 1, Kim et al. 2003. PubMed ID: 12920089). Two siblings of this individual, aged 38 and 43 years, harbored this variant, but were unaffected at the time of testing (Figure 1, Kim et al. 2003. PubMed ID: 12920089). This variant is reported in 0.055% of alleles in individuals of Latino descent in gnomAD and is interpreted as uncertain significance by the vast majority of submitters in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/411912/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 19, 2025