NM_020975.6(RET):c.2543T>G (p.Met848Arg) AND Multiple endocrine neoplasia, type 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 2023
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:: RCV004012456.2

Allele description [Variation Report for NM_020975.6(RET):c.2543T>G (p.Met848Arg)]

NM_020975.6(RET):c.2543T>G (p.Met848Arg)

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.2543T>G (p.Met848Arg)

HGVS:

NC_000010.11:g.43119681T>G
NG_007489.1:g.47613T>G
NM_000323.2:c.2543T>G
NM_001355216.2:c.1781T>G
NM_001406743.1:c.2543T>G
NM_001406744.1:c.2543T>G
NM_001406759.1:c.2543T>G
NM_001406760.1:c.2543T>G
NM_001406761.1:c.2414T>G
NM_001406762.1:c.2414T>G
NM_001406763.1:c.2408T>G
NM_001406764.1:c.2414T>G
NM_001406765.1:c.2408T>G
NM_001406766.1:c.2255T>G
NM_001406767.1:c.2255T>G
NM_001406768.1:c.2279T>G
NM_001406769.1:c.2147T>G
NM_001406770.1:c.2255T>G
NM_001406771.1:c.2105T>G
NM_001406772.1:c.2147T>G
NM_001406773.1:c.2105T>G
NM_001406774.1:c.2018T>G
NM_001406775.1:c.1817T>G
NM_001406776.1:c.1817T>G
NM_001406777.1:c.1817T>G
NM_001406778.1:c.1817T>G
NM_001406779.1:c.1646T>G
NM_001406780.1:c.1646T>G
NM_001406781.1:c.1646T>G
NM_001406782.1:c.1646T>G
NM_001406783.1:c.1517T>G
NM_001406784.1:c.1553T>G
NM_001406785.1:c.1526T>G
NM_001406786.1:c.1517T>G
NM_001406787.1:c.1511T>G
NM_001406788.1:c.1358T>G
NM_001406789.1:c.1358T>G
NM_001406790.1:c.1358T>G
NM_001406791.1:c.1238T>G
NM_001406792.1:c.1094T>G
NM_001406793.1:c.1094T>G
NM_001406794.1:c.1094T>G
NM_020629.2:c.2543T>G
NM_020630.7:c.2543T>G
NM_020975.6:c.2543T>GMANE SELECT
NP_000314.1:p.Met848Arg
NP_001342145.1:p.Met594Arg
NP_001393672.1:p.Met848Arg
NP_001393673.1:p.Met848Arg
NP_001393688.1:p.Met848Arg
NP_001393689.1:p.Met848Arg
NP_001393690.1:p.Met805Arg
NP_001393691.1:p.Met805Arg
NP_001393692.1:p.Met803Arg
NP_001393693.1:p.Met805Arg
NP_001393694.1:p.Met803Arg
NP_001393695.1:p.Met752Arg
NP_001393696.1:p.Met752Arg
NP_001393697.1:p.Met760Arg
NP_001393698.1:p.Met716Arg
NP_001393699.1:p.Met752Arg
NP_001393700.1:p.Met702Arg
NP_001393701.1:p.Met716Arg
NP_001393702.1:p.Met702Arg
NP_001393703.1:p.Met673Arg
NP_001393704.1:p.Met606Arg
NP_001393705.1:p.Met606Arg
NP_001393706.1:p.Met606Arg
NP_001393707.1:p.Met606Arg
NP_001393708.1:p.Met549Arg
NP_001393709.1:p.Met549Arg
NP_001393710.1:p.Met549Arg
NP_001393711.1:p.Met549Arg
NP_001393712.1:p.Met506Arg
NP_001393713.1:p.Met518Arg
NP_001393714.1:p.Met509Arg
NP_001393715.1:p.Met506Arg
NP_001393716.1:p.Met504Arg
NP_001393717.1:p.Met453Arg
NP_001393718.1:p.Met453Arg
NP_001393719.1:p.Met453Arg
NP_001393720.1:p.Met413Arg
NP_001393721.1:p.Met365Arg
NP_001393722.1:p.Met365Arg
NP_001393723.1:p.Met365Arg
NP_065680.1:p.Met848Arg
NP_065681.1:p.Met848Arg
NP_065681.1:p.Met848Arg
NP_066124.1:p.Met848Arg
NP_066124.1:p.Met848Arg
LRG_518t1:c.2543T>G
LRG_518t2:c.2543T>G
LRG_518:g.47613T>G
LRG_518p1:p.Met848Arg
LRG_518p2:p.Met848Arg
NC_000010.10:g.43615129T>G
NM_020630.4:c.2543T>G
NM_020975.4:c.2543T>G

Protein change:

M365R

Molecular consequence:

NM_000323.2:c.2543T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001355216.2:c.1781T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.2543T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.2543T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.2543T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.2543T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.2414T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.2414T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.2408T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.2414T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.2408T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.2255T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.2255T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.2279T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.2147T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.2255T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.2105T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.2147T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.2105T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.2018T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.1817T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.1817T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.1817T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.1817T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.1646T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.1646T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.1646T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.1646T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.1517T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406784.1:c.1553T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.1526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.1517T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.1511T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.1358T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.1358T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.1358T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.1238T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406792.1:c.1094T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406793.1:c.1094T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406794.1:c.1094T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.2543T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.2543T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.2543T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Multiple endocrine neoplasia, type 2 (MEN2)
Identifiers:: MONDO: MONDO:0019003; MedGen: C4048306

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004842971	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Nov 30, 2023)	germline	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

SCV004842971

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Nov 30, 2023)

germline

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	germline	unknown	1	not provided	not provided	108544	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 All of Us Research Program, National Institutes of Health, SCV004842971.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 2, 2024

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