NM_020975.6(RET):c.1900T>G (p.Cys634Gly) AND Multiple endocrine neoplasia type 2A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 9, 2002
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:: RCV000014922.28

Allele description [Variation Report for NM_020975.6(RET):c.1900T>G (p.Cys634Gly)]

NM_020975.6(RET):c.1900T>G (p.Cys634Gly)

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.1900T>G (p.Cys634Gly)

Other names:

p.C634G:TGC>GGC

HGVS:

NC_000010.11:g.43114500T>G
NG_007489.1:g.42432T>G
NM_000323.2:c.1900T>G
NM_001355216.2:c.1138T>G
NM_001406743.1:c.1900T>G
NM_001406744.1:c.1900T>G
NM_001406759.1:c.1900T>G
NM_001406760.1:c.1900T>G
NM_001406761.1:c.1771T>G
NM_001406762.1:c.1771T>G
NM_001406764.1:c.1771T>G
NM_001406766.1:c.1612T>G
NM_001406767.1:c.1612T>G
NM_001406769.1:c.1504T>G
NM_001406770.1:c.1612T>G
NM_001406771.1:c.1462T>G
NM_001406772.1:c.1504T>G
NM_001406773.1:c.1462T>G
NM_001406774.1:c.1375T>G
NM_001406775.1:c.1174T>G
NM_001406776.1:c.1174T>G
NM_001406777.1:c.1174T>G
NM_001406778.1:c.1174T>G
NM_001406779.1:c.1003T>G
NM_001406780.1:c.1003T>G
NM_001406781.1:c.1003T>G
NM_001406782.1:c.1003T>G
NM_001406783.1:c.874T>G
NM_001406784.1:c.910T>G
NM_001406785.1:c.883T>G
NM_001406786.1:c.874T>G
NM_001406788.1:c.715T>G
NM_001406789.1:c.715T>G
NM_001406790.1:c.715T>G
NM_001406791.1:c.595T>G
NM_001406792.1:c.451T>G
NM_001406793.1:c.451T>G
NM_001406794.1:c.451T>G
NM_020629.2:c.1900T>G
NM_020630.7:c.1900T>G
NM_020975.6:c.1900T>GMANE SELECT
NP_000314.1:p.Cys634Gly
NP_001342145.1:p.Cys380Gly
NP_001342145.1:p.Cys380Gly
NP_001393672.1:p.Cys634Gly
NP_001393673.1:p.Cys634Gly
NP_001393688.1:p.Cys634Gly
NP_001393689.1:p.Cys634Gly
NP_001393690.1:p.Cys591Gly
NP_001393691.1:p.Cys591Gly
NP_001393693.1:p.Cys591Gly
NP_001393695.1:p.Cys538Gly
NP_001393696.1:p.Cys538Gly
NP_001393698.1:p.Cys502Gly
NP_001393699.1:p.Cys538Gly
NP_001393700.1:p.Cys488Gly
NP_001393701.1:p.Cys502Gly
NP_001393702.1:p.Cys488Gly
NP_001393703.1:p.Cys459Gly
NP_001393704.1:p.Cys392Gly
NP_001393705.1:p.Cys392Gly
NP_001393706.1:p.Cys392Gly
NP_001393707.1:p.Cys392Gly
NP_001393708.1:p.Cys335Gly
NP_001393709.1:p.Cys335Gly
NP_001393710.1:p.Cys335Gly
NP_001393711.1:p.Cys335Gly
NP_001393712.1:p.Cys292Gly
NP_001393713.1:p.Cys304Gly
NP_001393714.1:p.Cys295Gly
NP_001393715.1:p.Cys292Gly
NP_001393717.1:p.Cys239Gly
NP_001393718.1:p.Cys239Gly
NP_001393719.1:p.Cys239Gly
NP_001393720.1:p.Cys199Gly
NP_001393721.1:p.Cys151Gly
NP_001393722.1:p.Cys151Gly
NP_001393723.1:p.Cys151Gly
NP_065680.1:p.Cys634Gly
NP_065681.1:p.Cys634Gly
NP_065681.1:p.Cys634Gly
NP_065681.1:p.Cys634Gly
NP_066124.1:p.Cys634Gly
NP_066124.1:p.Cys634Gly
LRG_518t1:c.1900T>G
LRG_518t2:c.1900T>G
LRG_518:g.42432T>G
LRG_518p1:p.Cys634Gly
LRG_518p2:p.Cys634Gly
NC_000010.10:g.43609948T>G
NM_001355216.1:c.1138T>G
NM_020630.4:c.1900T>G
NM_020630.6:c.1900T>G
NM_020975.4:c.1900T>G
P07949:p.Cys634Gly

Protein change:

C151G; CYS634GLY

Links:

UniProtKB: P07949#VAR_006323; OMIM: 164761.0003; dbSNP: rs75076352

NCBI 1000 Genomes Browser:

rs75076352

Molecular consequence:

NM_000323.2:c.1900T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001355216.2:c.1138T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.1900T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.1900T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.1900T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.1900T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.1771T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.1771T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.1771T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.1612T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.1612T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.1504T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.1612T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.1462T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.1504T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.1462T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.1375T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.1174T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.1174T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.1174T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.1174T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.1003T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.1003T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.1003T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.1003T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.874T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406784.1:c.910T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.883T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.874T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.715T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.715T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.715T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406792.1:c.451T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406793.1:c.451T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406794.1:c.451T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.1900T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.1900T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.1900T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Multiple endocrine neoplasia type 2A
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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PREDICTED: Mus musculus N-terminal EF-hand calcium binding protein 3 (Necab3), t...
PREDICTED: Mus musculus N-terminal EF-hand calcium binding protein 3 (Necab3), transcript variant X8, mRNA
gi|1907142097|ref|XM_030251902.2|

Nucleotide
Homo sapiens carnitine palmitoyltransferase 2 (CPT2), transcript variant 1, mRNA
Homo sapiens carnitine palmitoyltransferase 2 (CPT2), transcript variant 1, mRNA
gi|169790951|ref|NM_000098.2|

Nucleotide
LOC132409794 [Mus musculus]
LOC132409794 [Mus musculus]
Gene ID:132409794

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035178	OMIM	no assertion criteria provided	Pathogenic (May 9, 2002)	germline	literature only	PubMed (7) [See all records that cite these PMIDs] 8099202, 3078962, 7907913, 9111993, 36900098, 7536460, 12000816 Robinson, M. F., Cote, G. J., Nunziata, V., Brandi, M. L., Ferrer, J. P., Martins Bugalho, M. J. G., Almeida Ruas, M. M., Chik, C., Colantuoni, V., Gagel, R. F. Mutation of a specific codon of the RET proto-oncogene in the multiple endocrine neoplasia type 2A/cutaneous lichen amyloidosis syndrome. (Abstract) Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Archipelago 1994.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035178

OMIM

no assertion criteria provided

Pathogenic
(May 9, 2002)

germline

literature only

PubMed (7)
[See all records that cite these PMIDs]

Robinson, M. F., Cote, G. J., Nunziata, V., Brandi, M. L., Ferrer, J. P., Martins Bugalho, M. J. G., Almeida Ruas, M. M., Chik, C., Colantuoni, V., Gagel, R. F. Mutation of a specific codon of the RET proto-oncogene in the multiple endocrine neoplasia type 2A/cutaneous lichen amyloidosis syndrome. (Abstract) Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Archipelago 1994.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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 (7)

Details of each submission

From OMIM, SCV000035178.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (7)

Description

In affected members of 3 families with MEN2A, Mulligan et al. (1993) found a TGC-to-GGC transversion at basepair 1831 of codon 380 in the RET gene, resulting in substitution of glycine for cysteine (C380G; 164761.0003). (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).) Robinson et al. (1994) and Seri et al. (1997) likewise identified the C634G mutation in families with MEN2A associated with cutaneous lichen amyloidosis (PLCA; see 105250).

In a 3-generation family with MEN2A, Chen et al. (2023) identified a germline C634G mutation in 4 family members. Three of them had been diagnosed with pheochromocytoma and medullary thyroid cancer, while the youngest, aged 18 years, had no evidence of disease.

In a patient and her father with pheochromocytoma (171300), Eng et al. (1995) identified a germline C634G mutation.

Neumann et al. (2002) identified the C634G substitution in the germline of a patient with pheochromocytoma. The mutation was not identified in 600 control chromosomes.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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