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

Clinical significance:Benign (Last evaluated: Nov 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000123318.7

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 2 (MEN2)
Identifiers:
MONDO: MONDO:0019003; MedGen: C4048306

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000166625Invitaecriteria provided, single submitter
Benign
(Nov 1, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000166625.7

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

Last Updated: Jun 14, 2021

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