NM_020975.6(RET):c.2611G>A (p.Val871Ile) AND Multiple endocrine neoplasia, type 2b

Clinical significance:Uncertain significance (Last evaluated: Sep 7, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409480.1

Allele description [Variation Report for NM_020975.6(RET):c.2611G>A (p.Val871Ile)]

NM_020975.6(RET):c.2611G>A (p.Val871Ile)

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.2611G>A (p.Val871Ile)
HGVS:
  • NC_000010.11:g.43120084G>A
  • NG_007489.1:g.48016G>A
  • NM_001355216.1:c.1849G>A
  • NM_020630.6:c.2611G>A
  • NM_020975.6:c.2611G>AMANE SELECT
  • NP_001342145.1:p.Val617Ile
  • NP_065681.1:p.Val871Ile
  • NP_066124.1:p.Val871Ile
  • NP_066124.1:p.Val871Ile
  • LRG_518t1:c.2611G>A
  • LRG_518t2:c.2611G>A
  • LRG_518:g.48016G>A
  • LRG_518p1:p.Val871Ile
  • NC_000010.10:g.43615532G>A
  • NM_020630.4:c.2611G>A
  • NM_020975.4:c.2611G>A
Protein change:
V617I
Links:
dbSNP: rs145170911
NCBI 1000 Genomes Browser:
rs145170911
Molecular consequence:
  • NM_001355216.1:c.1849G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.6:c.2611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.2611G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000489987Counsylcriteria provided, single submitter
Uncertain significance
(Sep 7, 2016)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Elevated level of serum carbohydrate antigen 19.9 as predictor of mortality in patients with advanced medullary thyroid cancer.

Elisei R, Lorusso L, Piaggi P, Torregrossa L, Pellegrini G, Molinaro E, Agate L, Bottici V, Pani F, Cacciato Insilla A, Casella F, Ciampi R, Tognetti I, Materazzi G, Basolo F, Romei C.

Eur J Endocrinol. 2015 Sep;173(3):297-304. doi: 10.1530/EJE-15-0304. Epub 2015 Jun 1.

PubMed [citation]
PMID:
26034076

In silico profiling and structural insights of missense mutations in RET protein kinase domain by molecular dynamics and docking approach.

George Priya Doss C, Rajith B, Chakraboty C, Balaji V, Magesh R, Gowthami B, Menon S, Swati M, Trivedi M, Paul J, Vasan R, Das M.

Mol Biosyst. 2014 Mar 4;10(3):421-36. doi: 10.1039/c3mb70427k. Epub 2013 Dec 12.

PubMed [citation]
PMID:
24336963
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000489987.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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