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

Recent activity

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COMM domain-containing protein 7 isoform X2 [Girardinichthys multiradiatus]
COMM domain-containing protein 7 isoform X2 [Girardinichthys multiradiatus]
gi|2215954558|ref|XP_047236095.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002732827	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 3, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002732827

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 3, 2022)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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