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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 7, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000409480.10

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_000323.2:c.2611G>A
NM_001355216.2:c.1849G>A
NM_001406743.1:c.2611G>A
NM_001406744.1:c.2611G>A
NM_001406759.1:c.2611G>A
NM_001406760.1:c.2611G>A
NM_001406761.1:c.2482G>A
NM_001406762.1:c.2482G>A
NM_001406763.1:c.2476G>A
NM_001406764.1:c.2482G>A
NM_001406765.1:c.2476G>A
NM_001406766.1:c.2323G>A
NM_001406767.1:c.2323G>A
NM_001406768.1:c.2347G>A
NM_001406769.1:c.2215G>A
NM_001406770.1:c.2323G>A
NM_001406771.1:c.2173G>A
NM_001406772.1:c.2215G>A
NM_001406773.1:c.2173G>A
NM_001406774.1:c.2086G>A
NM_001406775.1:c.1885G>A
NM_001406776.1:c.1885G>A
NM_001406777.1:c.1885G>A
NM_001406778.1:c.1885G>A
NM_001406779.1:c.1714G>A
NM_001406780.1:c.1714G>A
NM_001406781.1:c.1714G>A
NM_001406782.1:c.1714G>A
NM_001406783.1:c.1585G>A
NM_001406784.1:c.1621G>A
NM_001406785.1:c.1594G>A
NM_001406786.1:c.1585G>A
NM_001406787.1:c.1579G>A
NM_001406788.1:c.1426G>A
NM_001406789.1:c.1426G>A
NM_001406790.1:c.1426G>A
NM_001406791.1:c.1306G>A
NM_001406792.1:c.1162G>A
NM_001406793.1:c.1162G>A
NM_001406794.1:c.1162G>A
NM_020629.2:c.2611G>A
NM_020630.7:c.2611G>A
NM_020975.6:c.2611G>AMANE SELECT
NP_000314.1:p.Val871Ile
NP_001342145.1:p.Val617Ile
NP_001342145.1:p.Val617Ile
NP_001393672.1:p.Val871Ile
NP_001393673.1:p.Val871Ile
NP_001393688.1:p.Val871Ile
NP_001393689.1:p.Val871Ile
NP_001393690.1:p.Val828Ile
NP_001393691.1:p.Val828Ile
NP_001393692.1:p.Val826Ile
NP_001393693.1:p.Val828Ile
NP_001393694.1:p.Val826Ile
NP_001393695.1:p.Val775Ile
NP_001393696.1:p.Val775Ile
NP_001393697.1:p.Val783Ile
NP_001393698.1:p.Val739Ile
NP_001393699.1:p.Val775Ile
NP_001393700.1:p.Val725Ile
NP_001393701.1:p.Val739Ile
NP_001393702.1:p.Val725Ile
NP_001393703.1:p.Val696Ile
NP_001393704.1:p.Val629Ile
NP_001393705.1:p.Val629Ile
NP_001393706.1:p.Val629Ile
NP_001393707.1:p.Val629Ile
NP_001393708.1:p.Val572Ile
NP_001393709.1:p.Val572Ile
NP_001393710.1:p.Val572Ile
NP_001393711.1:p.Val572Ile
NP_001393712.1:p.Val529Ile
NP_001393713.1:p.Val541Ile
NP_001393714.1:p.Val532Ile
NP_001393715.1:p.Val529Ile
NP_001393716.1:p.Val527Ile
NP_001393717.1:p.Val476Ile
NP_001393718.1:p.Val476Ile
NP_001393719.1:p.Val476Ile
NP_001393720.1:p.Val436Ile
NP_001393721.1:p.Val388Ile
NP_001393722.1:p.Val388Ile
NP_001393723.1:p.Val388Ile
NP_065680.1:p.Val871Ile
NP_065681.1:p.Val871Ile
NP_065681.1:p.Val871Ile
NP_065681.1:p.Val871Ile
NP_066124.1: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
LRG_518p2:p.Val871Ile
NC_000010.10:g.43615532G>A
NM_001355216.1:c.1849G>A
NM_020630.4:c.2611G>A
NM_020630.6:c.2611G>A
NM_020975.4:c.2611G>A

Protein change:

V388I

Links:

dbSNP: rs145170911

NCBI 1000 Genomes Browser:

rs145170911

Molecular consequence:

NM_000323.2:c.2611G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001355216.2:c.1849G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.2611G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.2611G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.2611G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.2611G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.2482G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.2482G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.2476G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.2482G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.2476G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.2323G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.2323G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.2347G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.2215G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.2323G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.2173G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.2215G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.2173G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.1714G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.1714G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.1714G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.1714G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406784.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.1426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.1426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.1426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.1306G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406792.1:c.1162G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406793.1:c.1162G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406794.1:c.1162G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.2611G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7: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
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

Recent activity

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XM_039106778 (0)
GEO Profiles
XM_008771887 (0)
GEO Profiles
PREDICTED: Homo sapiens Fli-1 proto-oncogene, ETS transcription factor (FLI1), t...
PREDICTED: Homo sapiens Fli-1 proto-oncogene, ETS transcription factor (FLI1), transcript variant X2, mRNA
gi|2217281855|ref|XM_017017406.2|

Nucleotide
PREDICTED: Rattus norvegicus kinesin family member 16B (Kif16b), transcript vari...
PREDICTED: Rattus norvegicus kinesin family member 16B (Kif16b), transcript variant X2, mRNA
gi|2678929566|ref|XM_006235108.5|

Nucleotide
Yersinia phage vB_YenM_201.16, complete genome
Yersinia phage vB_YenM_201.16, complete genome
gi|2206602828|gb|OM046628.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000489987	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Sep 7, 2016)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 26034076, 24336963, 22703879 Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000489987

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Sep 7, 2016)

unknown

clinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV000489987.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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