NM_020630.4(RET):c.1858T>A (p.Cys620Ser) AND MEN2A and Unclassified

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:
1 submission [Details]
Record status:
current
Accession:
RCV000021798.1

Allele description [Variation Report for NM_020630.4(RET):c.1858T>A (p.Cys620Ser)]

NM_020630.4(RET):c.1858T>A (p.Cys620Ser)

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.1858T>A (p.Cys620Ser)
HGVS:
  • NC_000010.11:g.43113654T>A
  • NG_007489.1:g.41586T>A
  • NM_020630.4:c.1858T>A
  • NM_020975.4:c.1858T>A
  • NP_065681.1:p.Cys620Ser
  • NP_066124.1:p.Cys620Ser
  • LRG_518t1:c.1858T>A
  • LRG_518t2:c.1858T>A
  • LRG_518:g.41586T>A
  • LRG_518p1:p.Cys620Ser
  • LRG_518p2:p.Cys620Ser
  • NC_000010.10:g.43609102T>A
Protein change:
C620S
Links:
dbSNP: 77316810
NCBI 1000 Genomes Browser:
rs77316810
Molecular consequence:
  • NM_020630.4:c.1858T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MEN2A and Unclassified
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000042464ARUPno assertion criteria providedPathogenic
(Dec 4, 2012)
not providedclinical testing

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

Description

Few reports: limited patient/clinical information. One patient had a family history of MEN2A. Additional references: PMID 11238493, 18062802 and 14718397.

SCV000042464

Summary from all submissions

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

Citations

PubMed

RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.

Blaugrund JE, Johns MM Jr, Eby YJ, Ball DW, Baylin SB, Hruban RH, Sidransky D.

Hum Mol Genet. 1994 Oct;3(10):1895-7. No abstract available.

PubMed [citation]
PMID:
7849720

Details of each submission

From ARUP, SCV000042464.1

#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: Dec 7, 2016