NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND Multiple endocrine neoplasia type 2A

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 17, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000410477.4

Allele description [Variation Report for NM_020975.6(RET):c.2488G>A (p.Gly830Arg)]

NM_020975.6(RET):c.2488G>A (p.Gly830Arg)

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.2488G>A (p.Gly830Arg)

HGVS:

NC_000010.11:g.43119626G>A
NG_007489.1:g.47558G>A
NM_000323.2:c.2488G>A
NM_001355216.2:c.1726G>A
NM_001406743.1:c.2488G>A
NM_001406744.1:c.2488G>A
NM_001406759.1:c.2488G>A
NM_001406760.1:c.2488G>A
NM_001406761.1:c.2359G>A
NM_001406762.1:c.2359G>A
NM_001406763.1:c.2353G>A
NM_001406764.1:c.2359G>A
NM_001406765.1:c.2353G>A
NM_001406766.1:c.2200G>A
NM_001406767.1:c.2200G>A
NM_001406768.1:c.2224G>A
NM_001406769.1:c.2092G>A
NM_001406770.1:c.2200G>A
NM_001406771.1:c.2050G>A
NM_001406772.1:c.2092G>A
NM_001406773.1:c.2050G>A
NM_001406774.1:c.1963G>A
NM_001406775.1:c.1762G>A
NM_001406776.1:c.1762G>A
NM_001406777.1:c.1762G>A
NM_001406778.1:c.1762G>A
NM_001406779.1:c.1591G>A
NM_001406780.1:c.1591G>A
NM_001406781.1:c.1591G>A
NM_001406782.1:c.1591G>A
NM_001406783.1:c.1462G>A
NM_001406784.1:c.1498G>A
NM_001406785.1:c.1471G>A
NM_001406786.1:c.1462G>A
NM_001406787.1:c.1456G>A
NM_001406788.1:c.1303G>A
NM_001406789.1:c.1303G>A
NM_001406790.1:c.1303G>A
NM_001406791.1:c.1183G>A
NM_001406792.1:c.1039G>A
NM_001406793.1:c.1039G>A
NM_001406794.1:c.1039G>A
NM_020629.2:c.2488G>A
NM_020630.7:c.2488G>A
NM_020975.6:c.2488G>AMANE SELECT
NP_000314.1:p.Gly830Arg
NP_001342145.1:p.Gly576Arg
NP_001342145.1:p.Gly576Arg
NP_001393672.1:p.Gly830Arg
NP_001393673.1:p.Gly830Arg
NP_001393688.1:p.Gly830Arg
NP_001393689.1:p.Gly830Arg
NP_001393690.1:p.Gly787Arg
NP_001393691.1:p.Gly787Arg
NP_001393692.1:p.Gly785Arg
NP_001393693.1:p.Gly787Arg
NP_001393694.1:p.Gly785Arg
NP_001393695.1:p.Gly734Arg
NP_001393696.1:p.Gly734Arg
NP_001393697.1:p.Gly742Arg
NP_001393698.1:p.Gly698Arg
NP_001393699.1:p.Gly734Arg
NP_001393700.1:p.Gly684Arg
NP_001393701.1:p.Gly698Arg
NP_001393702.1:p.Gly684Arg
NP_001393703.1:p.Gly655Arg
NP_001393704.1:p.Gly588Arg
NP_001393705.1:p.Gly588Arg
NP_001393706.1:p.Gly588Arg
NP_001393707.1:p.Gly588Arg
NP_001393708.1:p.Gly531Arg
NP_001393709.1:p.Gly531Arg
NP_001393710.1:p.Gly531Arg
NP_001393711.1:p.Gly531Arg
NP_001393712.1:p.Gly488Arg
NP_001393713.1:p.Gly500Arg
NP_001393714.1:p.Gly491Arg
NP_001393715.1:p.Gly488Arg
NP_001393716.1:p.Gly486Arg
NP_001393717.1:p.Gly435Arg
NP_001393718.1:p.Gly435Arg
NP_001393719.1:p.Gly435Arg
NP_001393720.1:p.Gly395Arg
NP_001393721.1:p.Gly347Arg
NP_001393722.1:p.Gly347Arg
NP_001393723.1:p.Gly347Arg
NP_065680.1:p.Gly830Arg
NP_065681.1:p.Gly830Arg
NP_065681.1:p.Gly830Arg
NP_065681.1:p.Gly830Arg
NP_066124.1:p.Gly830Arg
NP_066124.1:p.Gly830Arg
LRG_518t1:c.2488G>A
LRG_518t2:c.2488G>A
LRG_518:g.47558G>A
LRG_518p1:p.Gly830Arg
LRG_518p2:p.Gly830Arg
NC_000010.10:g.43615074G>A
NM_001355216.1:c.1726G>A
NM_020630.4:c.2488G>A
NM_020630.6:c.2488G>A
NM_020975.4:c.2488G>A

Protein change:

G347R

Links:

dbSNP: rs200127630

NCBI 1000 Genomes Browser:

rs200127630

Molecular consequence:

NM_000323.2:c.2488G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001355216.2:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.2488G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.2488G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.2488G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.2488G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.2359G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.2359G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.2353G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.2359G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.2353G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.2200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.2200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.2224G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.2200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.2050G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.2050G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406784.1:c.1498G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.1303G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.1303G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.1303G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406792.1:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406793.1:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406794.1:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.2488G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.2488G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.2488G>A - 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

Recent activity

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PREDICTED: Homo sapiens apoptosis enhancing nuclease (AEN), transcript variant X...
PREDICTED: Homo sapiens apoptosis enhancing nuclease (AEN), transcript variant X9, mRNA
gi|2462545527|ref|XM_054378629.1|

Nucleotide
protein eva-1 homolog C isoform 1 precursor [Homo sapiens]
protein eva-1 homolog C isoform 1 precursor [Homo sapiens]
gi|21361800|ref|NP_478067.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000489756	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Dec 1, 2015)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24336963, 22174939 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV004018056	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Uncertain significance (Apr 17, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000489756

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Dec 1, 2015)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV004018056

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Uncertain significance
(Apr 17, 2023)

unknown

clinical testing

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

In silico profiling and structural insights of missense mutations in RET protein kinase domain by molecular dynamics and docking approach.

George Priya Doss C, Rajith B, Chakraboty C, Balaji V, Magesh R, Gowthami B, Menon S, Swati M, Trivedi M, Paul J, Vasan R, Das M.

Mol Biosyst. 2014 Mar 4;10(3):421-36. doi: 10.1039/c3mb70427k. Epub 2013 Dec 12.

PubMed [citation]

PMID:: 24336963

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

So MT, Leon TY, Cheng G, Tang CS, Miao XP, Cornes BK, Diem NN, Cui L, Ngan ES, Lui VC, Wu XZ, Wang B, Wang H, Yuan ZW, Huang LM, Li L, Xia H, Zhu D, Liu J, Nguyen TL, Chan IH, Chung PH, et al.

PLoS One. 2011;6(12):e28986. doi: 10.1371/journal.pone.0028986. Epub 2011 Dec 9.

PubMed [citation]

PMID:: 22174939
PMCID:: PMC3235168

Details of each submission

From Counsyl, SCV000489756.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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

From Myriad Genetics, Inc., SCV004018056.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

#	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: Nov 10, 2024

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