NM_020975.6(RET):c.2225C>T (p.Thr742Met) AND Multiple endocrine neoplasia type 2A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 21, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000409934.3

Allele description [Variation Report for NM_020975.6(RET):c.2225C>T (p.Thr742Met)]

NM_020975.6(RET):c.2225C>T (p.Thr742Met)

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.2225C>T (p.Thr742Met)

HGVS:

NC_000010.11:g.43116672C>T
NG_007489.1:g.44604C>T
NM_000323.2:c.2225C>T
NM_001355216.2:c.1463C>T
NM_001406743.1:c.2225C>T
NM_001406744.1:c.2225C>T
NM_001406759.1:c.2225C>T
NM_001406760.1:c.2225C>T
NM_001406761.1:c.2096C>T
NM_001406762.1:c.2096C>T
NM_001406763.1:c.2090C>T
NM_001406764.1:c.2096C>T
NM_001406765.1:c.2090C>T
NM_001406766.1:c.1937C>T
NM_001406767.1:c.1937C>T
NM_001406768.1:c.1961C>T
NM_001406769.1:c.1829C>T
NM_001406770.1:c.1937C>T
NM_001406771.1:c.1787C>T
NM_001406772.1:c.1829C>T
NM_001406773.1:c.1787C>T
NM_001406774.1:c.1700C>T
NM_001406775.1:c.1499C>T
NM_001406776.1:c.1499C>T
NM_001406777.1:c.1499C>T
NM_001406778.1:c.1499C>T
NM_001406779.1:c.1328C>T
NM_001406780.1:c.1328C>T
NM_001406781.1:c.1328C>T
NM_001406782.1:c.1328C>T
NM_001406783.1:c.1199C>T
NM_001406784.1:c.1235C>T
NM_001406785.1:c.1208C>T
NM_001406786.1:c.1199C>T
NM_001406787.1:c.1193C>T
NM_001406788.1:c.1040C>T
NM_001406789.1:c.1040C>T
NM_001406790.1:c.1040C>T
NM_001406791.1:c.920C>T
NM_001406792.1:c.776C>T
NM_001406793.1:c.776C>T
NM_001406794.1:c.776C>T
NM_020629.2:c.2225C>T
NM_020630.7:c.2225C>T
NM_020975.6:c.2225C>TMANE SELECT
NP_000314.1:p.Thr742Met
NP_001342145.1:p.Thr488Met
NP_001342145.1:p.Thr488Met
NP_001393672.1:p.Thr742Met
NP_001393673.1:p.Thr742Met
NP_001393688.1:p.Thr742Met
NP_001393689.1:p.Thr742Met
NP_001393690.1:p.Thr699Met
NP_001393691.1:p.Thr699Met
NP_001393692.1:p.Thr697Met
NP_001393693.1:p.Thr699Met
NP_001393694.1:p.Thr697Met
NP_001393695.1:p.Thr646Met
NP_001393696.1:p.Thr646Met
NP_001393697.1:p.Thr654Met
NP_001393698.1:p.Thr610Met
NP_001393699.1:p.Thr646Met
NP_001393700.1:p.Thr596Met
NP_001393701.1:p.Thr610Met
NP_001393702.1:p.Thr596Met
NP_001393703.1:p.Thr567Met
NP_001393704.1:p.Thr500Met
NP_001393705.1:p.Thr500Met
NP_001393706.1:p.Thr500Met
NP_001393707.1:p.Thr500Met
NP_001393708.1:p.Thr443Met
NP_001393709.1:p.Thr443Met
NP_001393710.1:p.Thr443Met
NP_001393711.1:p.Thr443Met
NP_001393712.1:p.Thr400Met
NP_001393713.1:p.Thr412Met
NP_001393714.1:p.Thr403Met
NP_001393715.1:p.Thr400Met
NP_001393716.1:p.Thr398Met
NP_001393717.1:p.Thr347Met
NP_001393718.1:p.Thr347Met
NP_001393719.1:p.Thr347Met
NP_001393720.1:p.Thr307Met
NP_001393721.1:p.Thr259Met
NP_001393722.1:p.Thr259Met
NP_001393723.1:p.Thr259Met
NP_065680.1:p.Thr742Met
NP_065681.1:p.Thr742Met
NP_065681.1:p.Thr742Met
NP_065681.1:p.Thr742Met
NP_066124.1:p.Thr742Met
NP_066124.1:p.Thr742Met
LRG_518t1:c.2225C>T
LRG_518t2:c.2225C>T
LRG_518:g.44604C>T
LRG_518p1:p.Thr742Met
LRG_518p2:p.Thr742Met
NC_000010.10:g.43612120C>T
NM_001355216.1:c.1463C>T
NM_020630.4:c.2225C>T
NM_020630.6:c.2225C>T
NM_020975.4:c.2225C>T
p.T742M

Protein change:

T259M

Links:

dbSNP: rs773256580

NCBI 1000 Genomes Browser:

rs773256580

Molecular consequence:

NM_000323.2:c.2225C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001355216.2:c.1463C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.2225C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.2225C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.2225C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.2225C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.2090C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.2090C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.1961C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.1829C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.1937C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.1787C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.1829C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.1787C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.1700C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.1499C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.1499C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.1499C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.1499C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.1328C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.1328C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.1328C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.1328C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.1199C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406784.1:c.1235C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.1208C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.1199C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.1193C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.1040C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.1040C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.1040C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.920C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406792.1:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406793.1:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406794.1:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.2225C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.2225C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.2225C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000489876	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Jun 21, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000489876

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Jun 21, 2016)

unknown

clinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Toledo RA, Hatakana R, Lourenço DM Jr, Lindsey SC, Camacho CP, Almeida M, Lima JV Jr, Sekiya T, Garralda E, Naslavsky MS, Yamamoto GL, Lazar M, Meirelles O, Sobreira TJ, Lebrao ML, Duarte YA, Blangero J, Zatz M, Cerutti JM, Maciel RM, Toledo SP.

Endocr Relat Cancer. 2015 Feb;22(1):65-76. doi: 10.1530/ERC-14-0491. Epub 2014 Nov 25.

PubMed [citation]

PMID:: 25425582
PMCID:: PMC4289937

Details of each submission

From Counsyl, SCV000489876.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jun 17, 2024

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