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NM_000245.4(MET):c.2362G>A (p.Val788Met) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002442439.2

Allele description [Variation Report for NM_000245.4(MET):c.2362G>A (p.Val788Met)]

NM_000245.4(MET):c.2362G>A (p.Val788Met)

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.2362G>A (p.Val788Met)
HGVS:
  • NC_000007.14:g.116759488G>A
  • NG_008996.1:g.92084G>A
  • NM_000245.4:c.2362G>AMANE SELECT
  • NM_001127500.3:c.2416G>A
  • NM_001324401.3:c.2362G>A
  • NM_001324402.2:c.1072G>A
  • NP_000236.2:p.Val788Met
  • NP_001120972.1:p.Val806Met
  • NP_001311330.1:p.Val788Met
  • NP_001311331.1:p.Val358Met
  • LRG_662t1:c.2416G>A
  • LRG_662:g.92084G>A
  • NC_000007.13:g.116399542G>A
  • NM_001127500.1:c.2416G>A
Protein change:
V358M
Links:
dbSNP: rs1489302008
NCBI 1000 Genomes Browser:
rs1489302008
Molecular consequence:
  • NM_000245.4:c.2362G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127500.3:c.2416G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324401.3:c.2362G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324402.2:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002732827Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Aug 3, 2022)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas.

Toledo RA, Qin Y, Cheng ZM, Gao Q, Iwata S, Silva GM, Prasad ML, Ocal IT, Rao S, Aronin N, Barontini M, Bruder J, Reddick RL, Chen Y, Aguiar RC, Dahia PL.

Clin Cancer Res. 2016 May 1;22(9):2301-10. doi: 10.1158/1078-0432.CCR-15-1841. Epub 2015 Dec 23.

PubMed [citation]
PMID:
26700204
PMCID:
PMC4854762

Details of each submission

From Ambry Genetics, SCV002732827.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.V806M variant (also known as c.2416G>A), located in coding exon 9 of the MET gene, results from a G to A substitution at nucleotide position 2416. The valine at codon 806 is replaced by methionine, an amino acid with highly similar properties. This alteration was detected in the exome of an index case of a three-generation kindred with non-syndromic pheochromocytomas (Toledo RA et al. Clin Cancer Res, 2016 05;22:2301-10). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024