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NM_000245.4(MET):c.1019A>G (p.Asp340Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 23, 2020
Accession:
VCV000041608.5
Variation ID:
41608
Description:
single nucleotide variant
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NM_000245.4(MET):c.1019A>G (p.Asp340Gly)

Allele ID
50047
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 116700103 (GRCh38) GRCh38 UCSC
7: 116340157 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_662t1:c.1019A>G LRG_662p1:p.Asp340Gly
LRG_662:g.32699A>G
NC_000007.13:g.116340157A>G
... more HGVS
Protein change
D340G
Other names
-
Canonical SPDI
NC_000007.14:116700102:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Exome Aggregation Consortium (ExAC) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00006
Links
ClinGen: CA215608
dbSNP: rs200690492
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Apr 24, 2013 RCV000034513.7
Uncertain significance 1 criteria provided, single submitter Jul 31, 2018 RCV000562476.1
Uncertain significance 1 criteria provided, single submitter Oct 23, 2020 RCV000535028.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MET No evidence available No evidence available GRCh38
GRCh37
1570 1616

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 31, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000673761.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.D340G variant (also known as c.1019A>G), located in coding exon 1 of the MET gene, results from an A to G substitution at nucleotide … (more)
Uncertain significance
(Apr 24, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111359.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Oct 23, 2020)
criteria provided, single submitter
Method: clinical testing
Renal cell carcinoma
Allele origin: germline
Invitae
Accession: SCV000623363.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces aspartic acid with glycine at codon 340 of the MET protein (p.Asp340Gly). The aspartic acid residue is highly conserved and there … (more)
variant of unknown significance
(Jul 13, 2012)
no assertion criteria provided
Method: research
not provided
Allele origin: germline
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000043297.1
Submitted: (Jul 15, 2012)
Evidence details
Publications
PubMed (1)
Comment:
Converted during submission to Uncertain significance.

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Johnston JJ American journal of human genetics 2012 PMID: 22703879
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MET - - - -

Text-mined citations for rs200690492...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 18, 2021