NM_020630.4(RET):c.1825T>G (p.Cys609Gly) AND Multiple endocrine neoplasia, type 2a

Clinical significance:Pathogenic (Last evaluated: Dec 4, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000021777.1

Allele description [Variation Report for NM_020630.4(RET):c.1825T>G (p.Cys609Gly)]

NM_020630.4(RET):c.1825T>G (p.Cys609Gly)

Gene:
RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NM_020630.4(RET):c.1825T>G (p.Cys609Gly)
HGVS:
  • NC_000010.11:g.43113621T>G
  • NG_007489.1:g.41553T>G
  • NM_020630.4:c.1825T>G
  • NM_020975.4:c.1825T>G
  • NP_065681.1:p.Cys609Gly
  • NP_066124.1:p.Cys609Gly
  • LRG_518t1:c.1825T>G
  • LRG_518t2:c.1825T>G
  • LRG_518:g.41553T>G
  • LRG_518p1:p.Cys609Gly
  • LRG_518p2:p.Cys609Gly
  • NC_000010.10:g.43609069T>G
  • P07949:p.Cys609Gly
Protein change:
C609G
Links:
UniProtKB: P07949#VAR_009470; dbSNP: 77558292
NCBI 1000 Genomes Browser:
rs77558292
Molecular consequence:
  • NM_020630.4:c.1825T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Multiple endocrine neoplasia, type 2a (MEN2A)
Synonyms:
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
Identifiers:
MeSH: D018813; MedGen: C0025268; Orphanet: 653; OMIM: 171400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000042443ARUP Institute,ARUP Laboratoriesno assertion criteria providedPathogenic
(Dec 4, 2012)
not providedclinical testing

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

Description

5 yr old had metastatic MTC. Three family reports, 6 have the mutation genotype: 5 MTC and 4 Pheo (PMID 20979234). Additional references: PMID 12037758, 18063059 and 15326638.

SCV000042443

Summary from all submissions

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

Citations

PubMed

Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group.

Frank-Raue K, Höppner W, Frilling A, Kotzerke J, Dralle H, Haase R, Mann K, Seif F, Kirchner R, Rendl J, Deckart HF, Ritter MM, Hampel R, Klempa J, Scholz GH, Raue F.

J Clin Endocrinol Metab. 1996 May;81(5):1780-3.

PubMed [citation]
PMID:
8626834

Details of each submission

From ARUP Institute,ARUP Laboratories, SCV000042443.1

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

Description

Converted during submission to pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2018