NM_020975.6(RET):c.3142C>G (p.Leu1048Val) AND Multiple endocrine neoplasia type 2B

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 12, 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:: RCV000410987.3

Allele description [Variation Report for NM_020975.6(RET):c.3142C>G (p.Leu1048Val)]

NM_020975.6(RET):c.3142C>G (p.Leu1048Val)

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.3142C>G (p.Leu1048Val)

HGVS:

NC_000010.11:g.43126677C>G
NG_007489.1:g.54609C>G
NM_000323.2:c.3142C>G
NM_001355216.2:c.2380C>G
NM_001406743.1:c.3142C>G
NM_001406744.1:c.3142C>G
NM_001406761.1:c.3013C>G
NM_001406762.1:c.3013C>G
NM_001406763.1:c.3007C>G
NM_001406764.1:c.3013C>G
NM_001406765.1:c.3007C>G
NM_001406766.1:c.2854C>G
NM_001406767.1:c.2854C>G
NM_001406768.1:c.2878C>G
NM_001406769.1:c.2746C>G
NM_001406770.1:c.2854C>G
NM_001406771.1:c.2704C>G
NM_001406772.1:c.2746C>G
NM_001406773.1:c.2704C>G
NM_001406774.1:c.2617C>G
NM_001406775.1:c.2416C>G
NM_001406776.1:c.2416C>G
NM_001406778.1:c.2416C>G
NM_001406779.1:c.2245C>G
NM_001406780.1:c.2245C>G
NM_001406781.1:c.2245C>G
NM_001406782.1:c.2245C>G
NM_001406783.1:c.2116C>G
NM_001406784.1:c.2152C>G
NM_001406785.1:c.2125C>G
NM_001406786.1:c.2116C>G
NM_001406787.1:c.2110C>G
NM_001406788.1:c.1957C>G
NM_001406789.1:c.1957C>G
NM_001406790.1:c.1957C>G
NM_001406791.1:c.1837C>G
NM_001406792.1:c.1693C>G
NM_001406794.1:c.1693C>G
NM_020629.2:c.3142C>G
NM_020630.7:c.3142C>G
NM_020975.6:c.3142C>GMANE SELECT
NP_000314.1:p.Leu1048Val
NP_001342145.1:p.Leu794Val
NP_001342145.1:p.Leu794Val
NP_001393672.1:p.Leu1048Val
NP_001393673.1:p.Leu1048Val
NP_001393690.1:p.Leu1005Val
NP_001393691.1:p.Leu1005Val
NP_001393692.1:p.Leu1003Val
NP_001393693.1:p.Leu1005Val
NP_001393694.1:p.Leu1003Val
NP_001393695.1:p.Leu952Val
NP_001393696.1:p.Leu952Val
NP_001393697.1:p.Leu960Val
NP_001393698.1:p.Leu916Val
NP_001393699.1:p.Leu952Val
NP_001393700.1:p.Leu902Val
NP_001393701.1:p.Leu916Val
NP_001393702.1:p.Leu902Val
NP_001393703.1:p.Leu873Val
NP_001393704.1:p.Leu806Val
NP_001393705.1:p.Leu806Val
NP_001393707.1:p.Leu806Val
NP_001393708.1:p.Leu749Val
NP_001393709.1:p.Leu749Val
NP_001393710.1:p.Leu749Val
NP_001393711.1:p.Leu749Val
NP_001393712.1:p.Leu706Val
NP_001393713.1:p.Leu718Val
NP_001393714.1:p.Leu709Val
NP_001393715.1:p.Leu706Val
NP_001393716.1:p.Leu704Val
NP_001393717.1:p.Leu653Val
NP_001393718.1:p.Leu653Val
NP_001393719.1:p.Leu653Val
NP_001393720.1:p.Leu613Val
NP_001393721.1:p.Leu565Val
NP_001393723.1:p.Leu565Val
NP_065680.1:p.Leu1048Val
NP_065681.1:p.Leu1048Val
NP_065681.1:p.Leu1048Val
NP_065681.1:p.Leu1048Val
NP_066124.1:p.Leu1048Val
NP_066124.1:p.Leu1048Val
LRG_518t1:c.3142C>G
LRG_518t2:c.3142C>G
LRG_518:g.54609C>G
LRG_518p1:p.Leu1048Val
LRG_518p2:p.Leu1048Val
NC_000010.10:g.43622125C>G
NM_001355216.1:c.2380C>G
NM_020630.4:c.3142C>G
NM_020630.6:c.3142C>G
NM_020975.4:c.3142C>G

Protein change:

L1003V

Links:

dbSNP: rs774347808

NCBI 1000 Genomes Browser:

rs774347808

Molecular consequence:

NM_000323.2:c.3142C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001355216.2:c.2380C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.3142C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.3142C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.3013C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.3013C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.3007C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.3013C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.3007C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.2854C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.2854C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.2878C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.2746C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.2854C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.2704C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.2746C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.2704C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.2617C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.2416C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.2416C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.2416C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.2245C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.2245C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.2245C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.2245C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.2116C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406784.1:c.2152C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.2125C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.2116C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.2110C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.1957C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.1957C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.1957C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.1837C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406792.1:c.1693C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406794.1:c.1693C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.3142C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.3142C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.3142C>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000489785	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Feb 12, 2016)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000489785

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Feb 12, 2016)

unknown

clinical testing

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

Details of each submission

From Counsyl, SCV000489785.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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 29, 2024

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