NM_020975.6(RET):c.1901G>T (p.Cys634Phe) AND Familial medullary thyroid carcinoma

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:

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

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

RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)
  • 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
UniProtKB: P07949#VAR_006324; OMIM: 164761.0006; dbSNP: rs75996173
NCBI 1000 Genomes Browser:
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]


Familial medullary thyroid carcinoma (MTC)
Thyroid cancer, familial medullary; MTC, familial
MONDO: MONDO:0007958; MedGen: C1833921; Orphanet: 653; OMIM: 155240

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000035185OMIMno 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



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]

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]
See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000035185.1

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


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.

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

Last Updated: Nov 20, 2021

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