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NM_020975.6(RET):c.509C>T (p.Thr170Ile) AND Multiple endocrine neoplasia type 2B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 28, 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:
RCV000410582.3

Allele description [Variation Report for NM_020975.6(RET):c.509C>T (p.Thr170Ile)]

NM_020975.6(RET):c.509C>T (p.Thr170Ile)

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.509C>T (p.Thr170Ile)
HGVS:
  • NC_000010.11:g.43102513C>T
  • NG_007489.1:g.30445C>T
  • NM_000323.2:c.509C>T
  • NM_001406743.1:c.509C>T
  • NM_001406744.1:c.509C>T
  • NM_001406759.1:c.509C>T
  • NM_001406760.1:c.509C>T
  • NM_001406761.1:c.380C>T
  • NM_001406762.1:c.380C>T
  • NM_001406763.1:c.509C>T
  • NM_001406764.1:c.380C>T
  • NM_001406765.1:c.509C>T
  • NM_001406768.1:c.380C>T
  • NM_001406769.1:c.509C>T
  • NM_001406771.1:c.509C>T
  • NM_001406772.1:c.509C>T
  • NM_001406773.1:c.509C>T
  • NM_001406774.1:c.380C>T
  • NM_001406779.1:c.509C>T
  • NM_001406780.1:c.509C>T
  • NM_001406781.1:c.509C>T
  • NM_001406782.1:c.509C>T
  • NM_001406783.1:c.380C>T
  • NM_001406785.1:c.509C>T
  • NM_001406786.1:c.380C>T
  • NM_001406787.1:c.509C>T
  • NM_020629.2:c.509C>T
  • NM_020630.7:c.509C>T
  • NM_020975.6:c.509C>TMANE SELECT
  • NP_000314.1:p.Thr170Ile
  • NP_001393672.1:p.Thr170Ile
  • NP_001393673.1:p.Thr170Ile
  • NP_001393688.1:p.Thr170Ile
  • NP_001393689.1:p.Thr170Ile
  • NP_001393690.1:p.Thr127Ile
  • NP_001393691.1:p.Thr127Ile
  • NP_001393692.1:p.Thr170Ile
  • NP_001393693.1:p.Thr127Ile
  • NP_001393694.1:p.Thr170Ile
  • NP_001393697.1:p.Thr127Ile
  • NP_001393698.1:p.Thr170Ile
  • NP_001393700.1:p.Thr170Ile
  • NP_001393701.1:p.Thr170Ile
  • NP_001393702.1:p.Thr170Ile
  • NP_001393703.1:p.Thr127Ile
  • NP_001393708.1:p.Thr170Ile
  • NP_001393709.1:p.Thr170Ile
  • NP_001393710.1:p.Thr170Ile
  • NP_001393711.1:p.Thr170Ile
  • NP_001393712.1:p.Thr127Ile
  • NP_001393714.1:p.Thr170Ile
  • NP_001393715.1:p.Thr127Ile
  • NP_001393716.1:p.Thr170Ile
  • NP_065680.1:p.Thr170Ile
  • NP_065681.1:p.Thr170Ile
  • NP_065681.1:p.Thr170Ile
  • NP_065681.1:p.Thr170Ile
  • NP_066124.1:p.Thr170Ile
  • NP_066124.1:p.Thr170Ile
  • LRG_518t1:c.509C>T
  • LRG_518t2:c.509C>T
  • LRG_518:g.30445C>T
  • LRG_518p1:p.Thr170Ile
  • LRG_518p2:p.Thr170Ile
  • NC_000010.10:g.43597961C>T
  • NM_020630.4:c.509C>T
  • NM_020630.6:c.509C>T
  • NM_020975.4:c.509C>T
Protein change:
T127I
Links:
dbSNP: rs200547906
NCBI 1000 Genomes Browser:
rs200547906
Molecular consequence:
  • NM_000323.2:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406783.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406785.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406786.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406787.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Multiple endocrine neoplasia type 2B
Synonyms:
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN IIB; NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008082; MeSH: D018814; MedGen: C0025269; Orphanet: 653; OMIM: 162300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000489905Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Jul 28, 2016) 		unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]
PMID:
22703879
PMCID:
PMC3397257

Details of each submission

From Counsyl, SCV000489905.2

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

Last Updated: Nov 3, 2024