NM_020975.4(RET):c.2372A>T (p.Tyr791Phe) AND Multiple endocrine neoplasia, type 2b

Clinical significance:Likely pathogenic (Last evaluated: May 13, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000431156.1

Allele description

NM_020975.4(RET):c.2372A>T (p.Tyr791Phe)

Gene:
RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NM_020975.4(RET):c.2372A>T (p.Tyr791Phe)
Other names:
p.Y791F:TAT>TTT
HGVS:
  • NC_000010.11:g.43118460A>T
  • NG_007489.1:g.46392A>T
  • NM_020630.4:c.2372A>T
  • NM_020975.4:c.2372A>T
  • NP_065681.1:p.Tyr791Phe
  • NP_066124.1:p.Tyr791Phe
  • LRG_518t1:c.2372A>T
  • LRG_518t2:c.2372A>T
  • LRG_518:g.46392A>T
  • LRG_518p1:p.Tyr791Phe
  • LRG_518p2:p.Tyr791Phe
  • NC_000010.10:g.43613908A>T
  • P07949:p.Tyr791Phe
Protein change:
Y791F; TYR791PHE
Links:
UniProtKB: P07949#VAR_009483; OMIM: 164761.0034; dbSNP: rs77724903
GMAF:
0.0002(T), 77724903
NCBI 1000 Genomes Browser:
rs77724903
Allele Frequency:
0.0012, GO-ESP
Molecular consequence:
  • NM_020975.4:c.2372A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Multiple endocrine neoplasia, type 2b (MEN2B)
Synonyms:
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN IIB; NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS; See all synonyms [MedGen]
Identifiers:
MeSH: D018814; MedGen: C0025269; Orphanet: 653; OMIM: 162300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000510485Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(May 13, 2016)
somaticliterature only

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.

Plaza Menacho I, Koster R, van der Sloot AM, Quax WJ, Osinga J, van der Sluis T, Hollema H, Burzynski GM, Gimm O, Buys CH, Eggen BJ, Hofstra RM.

Cancer Res. 2005 Mar 1;65(5):1729-37.

PubMed [citation]
PMID:
15753368

Details of each submission

From Database of Curated Mutations (DoCM), SCV000510485.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018