NM_020975.6(RET):c.3188-9C>T AND Multiple endocrine neoplasia, type 2b

Clinical significance:Uncertain significance (Last evaluated: Dec 10, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410823.1

Allele description [Variation Report for NM_020975.6(RET):c.3188-9C>T]

NM_020975.6(RET):c.3188-9C>T

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.3188-9C>T
HGVS:
  • NC_000010.11:g.43128103C>T
  • NG_007489.1:g.56035C>T
  • NM_020975.6:c.3188-9C>TMANE SELECT
  • LRG_518t1:c.3188-9C>T
  • LRG_518:g.56035C>T
  • NC_000010.10:g.43623551C>T
  • NM_020975.4:c.3188-9C>T
Links:
dbSNP: rs551159582
NCBI 1000 Genomes Browser:
rs551159582
Molecular consequence:
  • NM_020975.6:c.3188-9C>T - intron variant - [Sequence Ontology: SO:0001627]

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:
MONDO: MONDO:0008082; 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
SCV000489765Counsylcriteria provided, single submitter
Uncertain significance
(Dec 10, 2015)
unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

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

Citations

PubMed

Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.

Julies MG, Moore SW, Kotze MJ, du Plessis L.

Eur J Hum Genet. 2001 Jun;9(6):419-23.

PubMed [citation]
PMID:
11436122

Details of each submission

From Counsyl, SCV000489765.1

#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: Jun 14, 2021

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