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

Clinical significance:Likely benign (Last evaluated: May 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000436831.1

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 2a (MEN2A)
Synonyms:
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
Identifiers:
MeSH: D018813; MedGen: C0025268; Orphanet: 653; OMIM: 171400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000510483Database 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,

SCV000785142Counsylcriteria provided, single submitter
Likely benign
(May 15, 2017)
unknownclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

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

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Toledo RA, Hatakana R, Lourenço DM Jr, Lindsey SC, Camacho CP, Almeida M, Lima JV Jr, Sekiya T, Garralda E, Naslavsky MS, Yamamoto GL, Lazar M, Meirelles O, Sobreira TJ, Lebrao ML, Duarte YA, Blangero J, Zatz M, Cerutti JM, Maciel RM, Toledo SP.

Endocr Relat Cancer. 2015 Feb;22(1):65-76. doi: 10.1530/ERC-14-0491. Epub 2014 Nov 25.

PubMed [citation]
PMID:
25425582
PMCID:
PMC4289937
See all PubMed Citations (10)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000510483.1

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

From Counsyl, SCV000785142.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 21, 2018