NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 8, 2014
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:: RCV000415312.10

Allele description [Variation Report for NM_020975.6(RET):c.2753T>C (p.Met918Thr)]

NM_020975.6(RET):c.2753T>C (p.Met918Thr)

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.2753T>C (p.Met918Thr)

Other names:

p.M918T:ATG>ACG

HGVS:

NC_000010.11:g.43121968T>C
NG_007489.1:g.49900T>C
NM_000323.2:c.2753T>C
NM_001355216.2:c.1991T>C
NM_001406743.1:c.2753T>C
NM_001406744.1:c.2753T>C
NM_001406759.1:c.2753T>C
NM_001406760.1:c.2753T>C
NM_001406761.1:c.2624T>C
NM_001406762.1:c.2624T>C
NM_001406763.1:c.2618T>C
NM_001406764.1:c.2624T>C
NM_001406765.1:c.2618T>C
NM_001406766.1:c.2465T>C
NM_001406767.1:c.2465T>C
NM_001406768.1:c.2489T>C
NM_001406769.1:c.2357T>C
NM_001406770.1:c.2465T>C
NM_001406771.1:c.2315T>C
NM_001406772.1:c.2357T>C
NM_001406773.1:c.2315T>C
NM_001406774.1:c.2228T>C
NM_001406775.1:c.2027T>C
NM_001406776.1:c.2027T>C
NM_001406777.1:c.2027T>C
NM_001406778.1:c.2027T>C
NM_001406779.1:c.1856T>C
NM_001406780.1:c.1856T>C
NM_001406781.1:c.1856T>C
NM_001406782.1:c.1856T>C
NM_001406783.1:c.1727T>C
NM_001406784.1:c.1763T>C
NM_001406785.1:c.1736T>C
NM_001406786.1:c.1727T>C
NM_001406787.1:c.1721T>C
NM_001406788.1:c.1568T>C
NM_001406789.1:c.1568T>C
NM_001406790.1:c.1568T>C
NM_001406791.1:c.1448T>C
NM_001406792.1:c.1304T>C
NM_001406793.1:c.1304T>C
NM_001406794.1:c.1304T>C
NM_020629.2:c.2753T>C
NM_020630.7:c.2753T>C
NM_020975.6:c.2753T>CMANE SELECT
NP_000314.1:p.Met918Thr
NP_001342145.1:p.Met664Thr
NP_001342145.1:p.Met664Thr
NP_001393672.1:p.Met918Thr
NP_001393673.1:p.Met918Thr
NP_001393688.1:p.Met918Thr
NP_001393689.1:p.Met918Thr
NP_001393690.1:p.Met875Thr
NP_001393691.1:p.Met875Thr
NP_001393692.1:p.Met873Thr
NP_001393693.1:p.Met875Thr
NP_001393694.1:p.Met873Thr
NP_001393695.1:p.Met822Thr
NP_001393696.1:p.Met822Thr
NP_001393697.1:p.Met830Thr
NP_001393698.1:p.Met786Thr
NP_001393699.1:p.Met822Thr
NP_001393700.1:p.Met772Thr
NP_001393701.1:p.Met786Thr
NP_001393702.1:p.Met772Thr
NP_001393703.1:p.Met743Thr
NP_001393704.1:p.Met676Thr
NP_001393705.1:p.Met676Thr
NP_001393706.1:p.Met676Thr
NP_001393707.1:p.Met676Thr
NP_001393708.1:p.Met619Thr
NP_001393709.1:p.Met619Thr
NP_001393710.1:p.Met619Thr
NP_001393711.1:p.Met619Thr
NP_001393712.1:p.Met576Thr
NP_001393713.1:p.Met588Thr
NP_001393714.1:p.Met579Thr
NP_001393715.1:p.Met576Thr
NP_001393716.1:p.Met574Thr
NP_001393717.1:p.Met523Thr
NP_001393718.1:p.Met523Thr
NP_001393719.1:p.Met523Thr
NP_001393720.1:p.Met483Thr
NP_001393721.1:p.Met435Thr
NP_001393722.1:p.Met435Thr
NP_001393723.1:p.Met435Thr
NP_065680.1:p.Met918Thr
NP_065681.1:p.Met918Thr
NP_065681.1:p.Met918Thr
NP_065681.1:p.Met918Thr
NP_066124.1:p.Met918Thr
NP_066124.1:p.Met918Thr
NP_066124.1:p.Met918Thr
LRG_518t1:c.2753T>C
LRG_518t2:c.2753T>C
LRG_518:g.49900T>C
LRG_518p1:p.Met918Thr
LRG_518p2:p.Met918Thr
NC_000010.10:g.43617416T>C
NM_001355216.1:c.1991T>C
NM_020630.4:c.2753T>C
NM_020630.6:c.2753T>C
NM_020630.7:c.2753T>C
NM_020975.4:c.2753T>C
NM_020975.5:c.2753T>C
P07949:p.Met918Thr

Protein change:

M435T; MET918THR

Links:

UniProtKB: P07949#VAR_006342; OMIM: 164761.0013; dbSNP: rs74799832

NCBI 1000 Genomes Browser:

rs74799832

Molecular consequence:

NM_000323.2:c.2753T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001355216.2:c.1991T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.2753T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.2753T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.2753T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.2753T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.2624T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.2624T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.2618T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.2624T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.2618T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.2465T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.2465T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.2489T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.2357T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.2465T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.2315T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.2357T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.2315T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.2228T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.2027T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.2027T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.2027T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.2027T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.1856T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.1856T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.1856T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.1856T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406784.1:c.1763T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.1736T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406792.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406793.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406794.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.2753T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.2753T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.2753T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypertelorism
Identifiers:: MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316

Name:: Tetralogy of Fallot (TOF)
Synonyms:: Fallot tetralogy
Identifiers:: MONDO: MONDO:0008542; MedGen: C0039685; Orphanet: 3303; OMIM: 187500; Human Phenotype Ontology: HP:0001636

Name:: Short stature
Identifiers:: MedGen: C0349588; Human Phenotype Ontology: HP:0004322

Name:: Hypothyroidism
Identifiers:: MONDO: MONDO:0005420; MedGen: C0020676; Human Phenotype Ontology: HP:0000821

Name:: Constipation
Synonyms:: Constipation disorder
Identifiers:: MONDO: MONDO:0002203; MedGen: C0009806; Human Phenotype Ontology: HP:0002019

Name:: Gingival overgrowth
Synonyms:: Gingival enlargement
Identifiers:: MONDO: MONDO:0002507; MedGen: C0376480; Human Phenotype Ontology: HP:0000212

Name:: Joint hypermobility
Identifiers:: MedGen: C1844820; Human Phenotype Ontology: HP:0001382

Name:: Thick vermilion border
Identifiers:: MedGen: C1836543; Human Phenotype Ontology: HP:0012471

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BioSample Links for SRA (Select 11103797) (1)
BioSample
Bf gonad-immature_female-4
Bf gonad-immature_female-4

biosample
Oxa1l oxidase assembly 1-like [Mus musculus]
Oxa1l oxidase assembly 1-like [Mus musculus]
Gene ID:69089

Gene
Gene Links for GEO Profiles (Select 37008644) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000492883	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 8, 2014)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000492883

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 8, 2014)

unknown

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492883.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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