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NM_020975.6(RET):c.1901_1902delinsTG (p.Cys634Leu) AND Multiple endocrine neoplasia, type 2a

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000021826.1

Allele description

NM_020975.6(RET):c.1901_1902delinsTG (p.Cys634Leu)

Gene:
RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NM_020975.6(RET):c.1901_1902delinsTG (p.Cys634Leu)
HGVS:
  • NC_000010.11:g.43114501_43114502delinsTG
  • NG_007489.1:g.42433_42434delinsTG
  • NM_001355216.1:c.1139_1140delinsTG
  • NM_020630.6:c.1901_1902delinsTG
  • NM_020975.6:c.1901_1902delinsTGMANE SELECT
  • NP_001342145.1:p.Cys380Leu
  • NP_065681.1:p.Cys634Leu
  • NP_066124.1:p.Cys634Leu
  • LRG_518:g.42433_42434delinsTG
  • NC_000010.10:g.43609949_43609950delinsTG
Protein change:
C380L
Links:
dbSNP: rs377767409
NCBI 1000 Genomes Browser:
rs377767409
Molecular consequence:
  • NM_001355216.1:c.1139_1140delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.6:c.1901_1902delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.1901_1902delinsTG - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Multiple endocrine neoplasia, type 2a (MEN2A)
Synonyms:
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; Sipple syndrome; MEN 2A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008234; MeSH: D018813; MedGen: C0025268; Orphanet: 653; OMIM: 171400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000042492Research and Development, ARUP Laboratories
no assertion criteria provided
Pathogenic
(May 4, 2018) 		germlineliterature only

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Genetic testing in pheochromocytoma or functional paraganglioma.

Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP.

J Clin Oncol. 2005 Dec 1;23(34):8812-8.

PubMed [citation]
PMID:
16314641

Details of each submission

From Research and Development, ARUP Laboratories, SCV000042492.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)

Description

Single French individual report: Pheo patient with personal/family history of MTC.

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

Last Updated: Oct 25, 2021