NM_020630.4(RET):c.1859G>T (p.Cys620Phe) AND MEN2A and FMTC

Clinical significance:Pathogenic (Last evaluated: Dec 4, 2012)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000021803.1

Allele description [Variation Report for NM_020630.4(RET):c.1859G>T (p.Cys620Phe)]

NM_020630.4(RET):c.1859G>T (p.Cys620Phe)

Gene:
RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NM_020630.4(RET):c.1859G>T (p.Cys620Phe)
HGVS:
  • NC_000010.11:g.43113655G>T
  • NG_007489.1:g.41587G>T
  • NM_020630.4:c.1859G>T
  • NM_020975.4:c.1859G>T
  • NP_065681.1:p.Cys620Phe
  • NP_066124.1:p.Cys620Phe
  • LRG_518t1:c.1859G>T
  • LRG_518t2:c.1859G>T
  • LRG_518:g.41587G>T
  • LRG_518p1:p.Cys620Phe
  • LRG_518p2:p.Cys620Phe
  • NC_000010.10:g.43609103G>T
  • P07949:p.Cys620Phe
Protein change:
C620F; CYS620PHE
Links:
UniProtKB: P07949#VAR_006318; OMIM: 164761.0024; dbSNP: 77503355
NCBI 1000 Genomes Browser:
rs77503355
Molecular consequence:
  • NM_020975.4:c.1859G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MEN2A and FMTC
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000055362ARUP Institute,ARUP Laboratoriesno assertion criteria providedPathogenic
(Dec 4, 2012)
not providedclinical testing

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

SCV000055363ARUP Institute,ARUP Laboratoriesno assertion criteria providedPathogenic
(Dec 4, 2012)
not providedclinical testing

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

Description

Three family reports, 8 have the mutation genotype: 3 MTC and 2 Pheo (PMID 20979234). Additional references: PMID 8909322, 18976013, 19443294, 18063059 and 7874109. Has been found with another mutation, see other C620F entry.

SCV000055362

C620F mutation was found in cis with Y791F mutation in a Czech MEN2A family, genotype c.[1859G>T;2372A>T]. 58 yr old had metastatic MTC. Additional reference: PMID 19826964. For reports of C620F alone, see other C620F entry.

SCV000055363

Summary from all submissions

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

Citations

PubMed

Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A.

Wells SA Jr, Chi DD, Toshima K, Dehner LP, Coffin CM, Dowton SB, Ivanovich JL, DeBenedetti MK, Dilley WG, Moley JF, et al.

Ann Surg. 1994 Sep;220(3):237-47; discussion 247-50.

PubMed [citation]
PMID:
7916559
PMCID:
PMC1234374

Double germline mutations in the RET Proto-oncogene in MEN 2A and MEN 2B kindreds.

Dvorakova S, Vaclavikova E, Ryska A, Cap J, Vlcek P, Duskova J, Kodetova D, Holub V, Novak Z, Bendlova B.

Exp Clin Endocrinol Diabetes. 2006 Apr;114(4):192-6.

PubMed [citation]
PMID:
16705552

Details of each submission

From ARUP Institute,ARUP Laboratories, SCV000055362.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providednot providednot providednot providednot providednot provided

From ARUP Institute,ARUP Laboratories, SCV000055363.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2017