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NM_020975.6(RET):c.2944C>T (p.Arg982Cys) AND Aganglionic megacolon

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000736279.10

Allele description [Variation Report for NM_020975.6(RET):c.2944C>T (p.Arg982Cys)]

NM_020975.6(RET):c.2944C>T (p.Arg982Cys)

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.2944C>T (p.Arg982Cys)
Other names:
p.R982C:CGC>TGC
HGVS:
  • NC_000010.11:g.43124887C>T
  • NG_007489.1:g.52819C>T
  • NM_000323.2:c.2944C>T
  • NM_001355216.2:c.2182C>T
  • NM_001406743.1:c.2944C>T
  • NM_001406744.1:c.2944C>T
  • NM_001406759.1:c.2944C>T
  • NM_001406760.1:c.2944C>T
  • NM_001406761.1:c.2815C>T
  • NM_001406762.1:c.2815C>T
  • NM_001406763.1:c.2809C>T
  • NM_001406764.1:c.2815C>T
  • NM_001406765.1:c.2809C>T
  • NM_001406766.1:c.2656C>T
  • NM_001406767.1:c.2656C>T
  • NM_001406768.1:c.2680C>T
  • NM_001406769.1:c.2548C>T
  • NM_001406770.1:c.2656C>T
  • NM_001406771.1:c.2506C>T
  • NM_001406772.1:c.2548C>T
  • NM_001406773.1:c.2506C>T
  • NM_001406774.1:c.2419C>T
  • NM_001406775.1:c.2218C>T
  • NM_001406776.1:c.2218C>T
  • NM_001406777.1:c.2218C>T
  • NM_001406778.1:c.2218C>T
  • NM_001406779.1:c.2047C>T
  • NM_001406780.1:c.2047C>T
  • NM_001406781.1:c.2047C>T
  • NM_001406782.1:c.2047C>T
  • NM_001406783.1:c.1918C>T
  • NM_001406784.1:c.1954C>T
  • NM_001406785.1:c.1927C>T
  • NM_001406786.1:c.1918C>T
  • NM_001406787.1:c.1912C>T
  • NM_001406788.1:c.1759C>T
  • NM_001406789.1:c.1759C>T
  • NM_001406790.1:c.1759C>T
  • NM_001406791.1:c.1639C>T
  • NM_001406792.1:c.1495C>T
  • NM_001406793.1:c.1495C>T
  • NM_001406794.1:c.1495C>T
  • NM_020629.2:c.2944C>T
  • NM_020630.7:c.2944C>T
  • NM_020975.6:c.2944C>TMANE SELECT
  • NP_000314.1:p.Arg982Cys
  • NP_001342145.1:p.Arg728Cys
  • NP_001342145.1:p.Arg728Cys
  • NP_001393672.1:p.Arg982Cys
  • NP_001393673.1:p.Arg982Cys
  • NP_001393688.1:p.Arg982Cys
  • NP_001393689.1:p.Arg982Cys
  • NP_001393690.1:p.Arg939Cys
  • NP_001393691.1:p.Arg939Cys
  • NP_001393692.1:p.Arg937Cys
  • NP_001393693.1:p.Arg939Cys
  • NP_001393694.1:p.Arg937Cys
  • NP_001393695.1:p.Arg886Cys
  • NP_001393696.1:p.Arg886Cys
  • NP_001393697.1:p.Arg894Cys
  • NP_001393698.1:p.Arg850Cys
  • NP_001393699.1:p.Arg886Cys
  • NP_001393700.1:p.Arg836Cys
  • NP_001393701.1:p.Arg850Cys
  • NP_001393702.1:p.Arg836Cys
  • NP_001393703.1:p.Arg807Cys
  • NP_001393704.1:p.Arg740Cys
  • NP_001393705.1:p.Arg740Cys
  • NP_001393706.1:p.Arg740Cys
  • NP_001393707.1:p.Arg740Cys
  • NP_001393708.1:p.Arg683Cys
  • NP_001393709.1:p.Arg683Cys
  • NP_001393710.1:p.Arg683Cys
  • NP_001393711.1:p.Arg683Cys
  • NP_001393712.1:p.Arg640Cys
  • NP_001393713.1:p.Arg652Cys
  • NP_001393714.1:p.Arg643Cys
  • NP_001393715.1:p.Arg640Cys
  • NP_001393716.1:p.Arg638Cys
  • NP_001393717.1:p.Arg587Cys
  • NP_001393718.1:p.Arg587Cys
  • NP_001393719.1:p.Arg587Cys
  • NP_001393720.1:p.Arg547Cys
  • NP_001393721.1:p.Arg499Cys
  • NP_001393722.1:p.Arg499Cys
  • NP_001393723.1:p.Arg499Cys
  • NP_065680.1:p.Arg982Cys
  • NP_065681.1:p.Arg982Cys
  • NP_065681.1:p.Arg982Cys
  • NP_065681.1:p.Arg982Cys
  • NP_066124.1:p.Arg982Cys
  • NP_066124.1:p.Arg982Cys
  • NP_066124.1:p.Arg982Cys
  • LRG_518t1:c.2944C>T
  • LRG_518t2:c.2944C>T
  • LRG_518:g.52819C>T
  • LRG_518p1:p.Arg982Cys
  • LRG_518p2:p.Arg982Cys
  • NC_000010.10:g.43620335C>T
  • NM_001355216.1:c.2182C>T
  • NM_020630.4:c.2944C>T
  • NM_020630.6:c.2944C>T
  • NM_020975.4:c.2944C>T
  • P07949:p.Arg982Cys
  • p.R982C
Protein change:
R499C; ARG982CYS
Links:
UniProtKB: P07949#VAR_006349; OMIM: 164761.0036; dbSNP: rs17158558
NCBI 1000 Genomes Browser:
rs17158558
Molecular consequence:
  • NM_000323.2:c.2944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355216.2:c.2182C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.2944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.2944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.2944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.2944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.2809C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.2809C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406766.1:c.2656C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406767.1:c.2656C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.2680C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.2548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406770.1:c.2656C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.2506C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.2548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.2506C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.2419C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406775.1:c.2218C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406776.1:c.2218C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406777.1:c.2218C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406778.1:c.2218C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406783.1:c.1918C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406784.1:c.1954C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406785.1:c.1927C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406786.1:c.1918C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406787.1:c.1912C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406788.1:c.1759C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406789.1:c.1759C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406790.1:c.1759C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406791.1:c.1639C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406792.1:c.1495C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406793.1:c.1495C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406794.1:c.1495C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.2944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.2944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.2944C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Aganglionic megacolon (HSCR)
Synonyms:
Hirschsprung's disease; Hirschsprung disease
Identifiers:
MONDO: MONDO:0018309; MeSH: D006627; MedGen: C0019569; Orphanet: 388; OMIM: PS142623; Human Phenotype Ontology: HP:0002251

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000864577Human Genomics Unit, Institute for molecular medicine Finland (FIMM)
no assertion criteria provided
Uncertain significance
(Jan 1, 2013) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes5not providednot providednot providednot providedresearch

Details of each submission

From Human Genomics Unit, Institute for molecular medicine Finland (FIMM), SCV000864577.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided5not providednot providednot provided

Last Updated: Apr 20, 2024