NM_000245.4(MET):c.1019A>G (p.Asp340Gly) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Jul 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000562476.1

Allele description [Variation Report for NM_000245.4(MET):c.1019A>G (p.Asp340Gly)]

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

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.1019A>G (p.Asp340Gly)
HGVS:
  • NC_000007.14:g.116700103A>G
  • NG_008996.1:g.32699A>G
  • NM_000245.4:c.1019A>GMANE SELECT
  • NM_001127500.3:c.1019A>G
  • NM_001324401.2:c.1019A>G
  • NM_001324402.2:c.-91+27526A>G
  • NP_000236.2:p.Asp340Gly
  • NP_001120972.1:p.Asp340Gly
  • NP_001120972.1:p.Asp340Gly
  • NP_001311330.1:p.Asp340Gly
  • LRG_662t1:c.1019A>G
  • LRG_662:g.32699A>G
  • LRG_662p1:p.Asp340Gly
  • NC_000007.13:g.116340157A>G
  • NM_000245.2:c.1019A>G
  • NM_001127500.1:c.1019A>G
Protein change:
D340G
Links:
dbSNP: rs200690492
NCBI 1000 Genomes Browser:
rs200690492
Molecular consequence:
  • NM_001324402.2:c.-91+27526A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000245.4:c.1019A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127500.3:c.1019A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324401.2:c.1019A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000673761Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jul 31, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000673761.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

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 position 1019. The aspartic acid at codon 340 is replaced by glycine, an amino acid with similar properties. <span style="font-family:sans-serif,arial,verdana,trebuchet ms">This alteration was previously reported as a secondary finding in 1/571 individuals undergoing exome<span style="font-family:sans-serif,arial,verdana,trebuchet ms"> sequencing due to an atherosclerosis phenotype (Johnston et al. Am. J. Hum. Genet<span style="font-family:sans-serif,arial,verdana,trebuchet ms">. 2012 Jul; 91(1):97-108). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 18, 2021

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