NM_020975.6(RET):c.1901G>T (p.Cys634Phe) AND Multiple endocrine neoplasia, type 2a

Clinical significance:Pathogenic (Last evaluated: May 9, 2002)

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:
RCV000014928.21

Allele description [Variation Report for NM_020975.6(RET):c.1901G>T (p.Cys634Phe)]

NM_020975.6(RET):c.1901G>T (p.Cys634Phe)

Gene:
RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)
HGVS:
  • NC_000010.11:g.43114501G>T
  • NG_007489.1:g.42433G>T
  • NM_001355216.1:c.1139G>T
  • NM_020630.6:c.1901G>T
  • NM_020975.6:c.1901G>TMANE SELECT
  • NP_001342145.1:p.Cys380Phe
  • NP_065681.1:p.Cys634Phe
  • NP_066124.1:p.Cys634Phe
  • LRG_518t1:c.1901G>T
  • LRG_518t2:c.1901G>T
  • LRG_518:g.42433G>T
  • NC_000010.10:g.43609949G>T
  • NM_020630.4:c.1901G>T
  • NM_020975.4:c.1901G>T
  • P07949:p.Cys634Phe
Protein change:
C380F; CYS634PHE
Links:
UniProtKB: P07949#VAR_006324; OMIM: 164761.0006; dbSNP: rs75996173
NCBI 1000 Genomes Browser:
rs75996173
Molecular consequence:
  • NM_001355216.1:c.1139G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.6:c.1901G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.1901G>T - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035184OMIMno assertion criteria providedPathogenic
(May 9, 2002)
germlineliterature only

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, et al.

Nature. 1993 Jun 3;363(6428):458-60.

PubMed [citation]
PMID:
8099202

Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.

Takahashi M, Buma Y, Iwamoto T, Inaguma Y, Ikeda H, Hiai H.

Oncogene. 1988 Nov;3(5):571-8.

PubMed [citation]
PMID:
3078962
See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000035184.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)

Description

In a family with MEN2A, Mulligan et al. (1993) found that affected members had a TGC-to-TTC transversion of basepair 1832 resulting in a substitution of phenylalanine for cysteine-380 (CYS380PHE). (The codon numbered 380 on the basis of the partial RET sequence published by Takahashi et al. (1988) is numbered codon 634 on the basis of the full-length RET sequence (Mulligan et al., 1994).)

Xue et al. (1994) found the same cys634-to-phe (C634F) mutation, caused by a TGC-to-TTC transversion at nucleotide 1832, in affected members of a family with medullary thyroid carcinoma (155240).

Neumann et al. (2002) identified the C634F substitution in the germline of a patient with sporadic pheochromocytoma (171300). The mutation was not identified in 600 control chromosomes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center