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NM_020975.6(RET):c.1941C>T (p.Ile647=) AND Hirschsprung disease, susceptibility to, 1

Germline classification:
risk factor (1 submission)
Last evaluated:
Apr 1, 1999
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:
RCV000014966.3

Allele description [Variation Report for NM_020975.6(RET):c.1941C>T (p.Ile647=)]

NM_020975.6(RET):c.1941C>T (p.Ile647=)

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.1941C>T (p.Ile647=)
Other names:
RET, ILE647ILE, 1941C-T; I647I
HGVS:
  • NC_000010.11:g.43114541C>T
  • NG_007489.1:g.42473C>T
  • NM_000323.2:c.1941C>T
  • NM_001355216.2:c.1179C>T
  • NM_001406743.1:c.1941C>T
  • NM_001406744.1:c.1941C>T
  • NM_001406759.1:c.1941C>T
  • NM_001406760.1:c.1941C>T
  • NM_001406761.1:c.1812C>T
  • NM_001406762.1:c.1812C>T
  • NM_001406763.1:c.1880-74C>T
  • NM_001406764.1:c.1812C>T
  • NM_001406765.1:c.1880-74C>T
  • NM_001406766.1:c.1653C>T
  • NM_001406767.1:c.1653C>T
  • NM_001406768.1:c.1751-74C>T
  • NM_001406769.1:c.1545C>T
  • NM_001406770.1:c.1653C>T
  • NM_001406771.1:c.1503C>T
  • NM_001406772.1:c.1545C>T
  • NM_001406773.1:c.1503C>T
  • NM_001406774.1:c.1416C>T
  • NM_001406775.1:c.1215C>T
  • NM_001406776.1:c.1215C>T
  • NM_001406777.1:c.1215C>T
  • NM_001406778.1:c.1215C>T
  • NM_001406779.1:c.1044C>T
  • NM_001406780.1:c.1044C>T
  • NM_001406781.1:c.1044C>T
  • NM_001406782.1:c.1044C>T
  • NM_001406783.1:c.915C>T
  • NM_001406784.1:c.951C>T
  • NM_001406785.1:c.924C>T
  • NM_001406786.1:c.915C>T
  • NM_001406787.1:c.983-74C>T
  • NM_001406788.1:c.756C>T
  • NM_001406789.1:c.756C>T
  • NM_001406790.1:c.756C>T
  • NM_001406791.1:c.636C>T
  • NM_001406792.1:c.492C>T
  • NM_001406793.1:c.492C>T
  • NM_001406794.1:c.492C>T
  • NM_020629.2:c.1941C>T
  • NM_020630.7:c.1941C>T
  • NM_020975.6:c.1941C>TMANE SELECT
  • NP_000314.1:p.Ile647=
  • NP_001342145.1:p.Ile393=
  • NP_001393672.1:p.Ile647=
  • NP_001393673.1:p.Ile647=
  • NP_001393688.1:p.Ile647=
  • NP_001393689.1:p.Ile647=
  • NP_001393690.1:p.Ile604=
  • NP_001393691.1:p.Ile604=
  • NP_001393693.1:p.Ile604=
  • NP_001393695.1:p.Ile551=
  • NP_001393696.1:p.Ile551=
  • NP_001393698.1:p.Ile515=
  • NP_001393699.1:p.Ile551=
  • NP_001393700.1:p.Ile501=
  • NP_001393701.1:p.Ile515=
  • NP_001393702.1:p.Ile501=
  • NP_001393703.1:p.Ile472=
  • NP_001393704.1:p.Ile405=
  • NP_001393705.1:p.Ile405=
  • NP_001393706.1:p.Ile405=
  • NP_001393707.1:p.Ile405=
  • NP_001393708.1:p.Ile348=
  • NP_001393709.1:p.Ile348=
  • NP_001393710.1:p.Ile348=
  • NP_001393711.1:p.Ile348=
  • NP_001393712.1:p.Ile305=
  • NP_001393713.1:p.Ile317=
  • NP_001393714.1:p.Ile308=
  • NP_001393715.1:p.Ile305=
  • NP_001393717.1:p.Ile252=
  • NP_001393718.1:p.Ile252=
  • NP_001393719.1:p.Ile252=
  • NP_001393720.1:p.Ile212=
  • NP_001393721.1:p.Ile164=
  • NP_001393722.1:p.Ile164=
  • NP_001393723.1:p.Ile164=
  • NP_065680.1:p.Ile647=
  • NP_065681.1:p.Ile647=
  • NP_065681.1:p.Ile647=
  • NP_066124.1:p.Ile647=
  • NP_066124.1:p.Ile647=
  • LRG_518t1:c.1941C>T
  • LRG_518t2:c.1941C>T
  • LRG_518:g.42473C>T
  • LRG_518p1:p.Ile647=
  • LRG_518p2:p.Ile647=
  • NC_000010.10:g.43609989C>T
  • NM_020630.4:c.1941C>T
  • NM_020975.4:c.1941C>T
Protein change:
ILE647ILE
Links:
OMIM: 164761.0037; dbSNP: rs75225191
NCBI 1000 Genomes Browser:
rs75225191
Molecular consequence:
  • NM_001406763.1:c.1880-74C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406765.1:c.1880-74C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406768.1:c.1751-74C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406787.1:c.983-74C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000323.2:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001355216.2:c.1179C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406743.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406744.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406759.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406760.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406761.1:c.1812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406762.1:c.1812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406764.1:c.1812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406766.1:c.1653C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406767.1:c.1653C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406769.1:c.1545C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406770.1:c.1653C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406771.1:c.1503C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406772.1:c.1545C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406773.1:c.1503C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406774.1:c.1416C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406775.1:c.1215C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406776.1:c.1215C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406777.1:c.1215C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406778.1:c.1215C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406779.1:c.1044C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406780.1:c.1044C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406781.1:c.1044C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406782.1:c.1044C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406783.1:c.915C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406784.1:c.951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406785.1:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406786.1:c.915C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406788.1:c.756C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406789.1:c.756C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406790.1:c.756C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406791.1:c.636C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406792.1:c.492C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406793.1:c.492C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406794.1:c.492C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020629.2:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020630.7:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020975.6:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
cryptic splice acceptor activation [PubMedVariation Ontology: 0375]

Condition(s)

Name:
Hirschsprung disease, susceptibility to, 1
Synonyms:
Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease
Identifiers:
MONDO: MONDO:0007723; MedGen: C3888239; Orphanet: 388; OMIM: 142623

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035222OMIM
no assertion criteria provided
risk factor
(Apr 1, 1999) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

Auricchio A, Griseri P, Carpentieri ML, Betsos N, Staiano A, Tozzi A, Priolo M, Thompson H, Bocciardi R, Romeo G, Ballabio A, Ceccherini I.

Am J Hum Genet. 1999 Apr;64(4):1216-21. No abstract available.

PubMed [citation]
PMID:
10090908
PMCID:
PMC1377847

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

Ceccherini I, Hofstra RM, Luo Y, Stulp RP, Barone V, Stelwagen T, Bocciardi R, Nijveen H, Bolino A, Seri M, et al.

Oncogene. 1994 Oct;9(10):3025-9. Erratum in: Oncogene. 1995 Mar 16;10(6):1257.

PubMed [citation]
PMID:
8084609

Details of each submission

From OMIM, SCV000035222.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Auricchio et al. (1999) described a patient with Hirschsprung disease (142623) who had a C-to-T transition at nucleotide 1941, causing no change in codon 647 (I647I) but producing an effect on splicing. The mutation was present in heterozygous state in combination with a heterozygous missense mutation at the EDNRB locus, S305N (131244.0006). The same I647I change had been described in another patient by Ceccherini et al. (1994). Both in vivo and in vitro, they showed that in 2 different patients the silent RET mutation interfered with correct transcription, possibly leading to a reduced level of the RET protein. The coexistence, reported for the first time, in the same patient of 2 functionally significant EDNRB and RET mutations suggested a direct genetic interaction between these 2 distinct transmembrane receptors in polygenic HSCR disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024