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NM_020975.6(RET):c.539G>A (p.Arg180Gln) AND Multiple endocrine neoplasia type 2A

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 28, 2019
Review status:
criteria provided, conflicting classifications
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:
RCV000410075.6

Allele description [Variation Report for NM_020975.6(RET):c.539G>A (p.Arg180Gln)]

NM_020975.6(RET):c.539G>A (p.Arg180Gln)

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.539G>A (p.Arg180Gln)
HGVS:
  • NC_000010.11:g.43102543G>A
  • NG_007489.1:g.30475G>A
  • NM_000323.2:c.539G>A
  • NM_001406743.1:c.539G>A
  • NM_001406744.1:c.539G>A
  • NM_001406759.1:c.539G>A
  • NM_001406760.1:c.539G>A
  • NM_001406761.1:c.410G>A
  • NM_001406762.1:c.410G>A
  • NM_001406763.1:c.539G>A
  • NM_001406764.1:c.410G>A
  • NM_001406765.1:c.539G>A
  • NM_001406768.1:c.410G>A
  • NM_001406769.1:c.539G>A
  • NM_001406771.1:c.539G>A
  • NM_001406772.1:c.539G>A
  • NM_001406773.1:c.539G>A
  • NM_001406774.1:c.410G>A
  • NM_001406779.1:c.539G>A
  • NM_001406780.1:c.539G>A
  • NM_001406781.1:c.539G>A
  • NM_001406782.1:c.539G>A
  • NM_001406783.1:c.410G>A
  • NM_001406785.1:c.539G>A
  • NM_001406786.1:c.410G>A
  • NM_001406787.1:c.539G>A
  • NM_020629.2:c.539G>A
  • NM_020630.7:c.539G>A
  • NM_020975.6:c.539G>AMANE SELECT
  • NP_000314.1:p.Arg180Gln
  • NP_001393672.1:p.Arg180Gln
  • NP_001393673.1:p.Arg180Gln
  • NP_001393688.1:p.Arg180Gln
  • NP_001393689.1:p.Arg180Gln
  • NP_001393690.1:p.Arg137Gln
  • NP_001393691.1:p.Arg137Gln
  • NP_001393692.1:p.Arg180Gln
  • NP_001393693.1:p.Arg137Gln
  • NP_001393694.1:p.Arg180Gln
  • NP_001393697.1:p.Arg137Gln
  • NP_001393698.1:p.Arg180Gln
  • NP_001393700.1:p.Arg180Gln
  • NP_001393701.1:p.Arg180Gln
  • NP_001393702.1:p.Arg180Gln
  • NP_001393703.1:p.Arg137Gln
  • NP_001393708.1:p.Arg180Gln
  • NP_001393709.1:p.Arg180Gln
  • NP_001393710.1:p.Arg180Gln
  • NP_001393711.1:p.Arg180Gln
  • NP_001393712.1:p.Arg137Gln
  • NP_001393714.1:p.Arg180Gln
  • NP_001393715.1:p.Arg137Gln
  • NP_001393716.1:p.Arg180Gln
  • NP_065680.1:p.Arg180Gln
  • NP_065681.1:p.Arg180Gln
  • NP_065681.1:p.Arg180Gln
  • NP_065681.1:p.Arg180Gln
  • NP_066124.1:p.Arg180Gln
  • NP_066124.1:p.Arg180Gln
  • LRG_518t1:c.539G>A
  • LRG_518t2:c.539G>A
  • LRG_518:g.30475G>A
  • LRG_518p1:p.Arg180Gln
  • LRG_518p2:p.Arg180Gln
  • NC_000010.10:g.43597991G>A
  • NM_020630.4:c.539G>A
  • NM_020630.6:c.539G>A
  • NM_020975.4:c.539G>A
Protein change:
R137Q
Links:
dbSNP: rs370736139
NCBI 1000 Genomes Browser:
rs370736139
Molecular consequence:
  • NM_000323.2:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406783.1:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406785.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406786.1:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406787.1:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.539G>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000489770Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Dec 18, 2015) 		unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001138020Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, et al.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

PubMed [citation]
PMID:
25637381
PMCID:
PMC4352885

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, Maas SM, Siderius L, Brooks AS, vd Ende JJ, Heydendael VM, Severijnen RS, Bax KM, Meijers C, Buys CH.

Hum Mutat. 2000;15(5):418-29.

PubMed [citation]
PMID:
10790203

Details of each submission

From Counsyl, SCV000489770.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001138020.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024