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NM_020975.6(RET):c.2365A>G (p.Lys789Glu) AND Hirschsprung disease, susceptibility to, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 10, 2023
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:
RCV003461202.1

Allele description [Variation Report for NM_020975.6(RET):c.2365A>G (p.Lys789Glu)]

NM_020975.6(RET):c.2365A>G (p.Lys789Glu)

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.2365A>G (p.Lys789Glu)
HGVS:
  • NC_000010.11:g.43118453A>G
  • NG_007489.1:g.46385A>G
  • NM_000323.2:c.2365A>G
  • NM_001355216.2:c.1603A>G
  • NM_001406743.1:c.2365A>G
  • NM_001406744.1:c.2365A>G
  • NM_001406759.1:c.2365A>G
  • NM_001406760.1:c.2365A>G
  • NM_001406761.1:c.2236A>G
  • NM_001406762.1:c.2236A>G
  • NM_001406763.1:c.2230A>G
  • NM_001406764.1:c.2236A>G
  • NM_001406765.1:c.2230A>G
  • NM_001406766.1:c.2077A>G
  • NM_001406767.1:c.2077A>G
  • NM_001406768.1:c.2101A>G
  • NM_001406769.1:c.1969A>G
  • NM_001406770.1:c.2077A>G
  • NM_001406771.1:c.1927A>G
  • NM_001406772.1:c.1969A>G
  • NM_001406773.1:c.1927A>G
  • NM_001406774.1:c.1840A>G
  • NM_001406775.1:c.1639A>G
  • NM_001406776.1:c.1639A>G
  • NM_001406777.1:c.1639A>G
  • NM_001406778.1:c.1639A>G
  • NM_001406779.1:c.1468A>G
  • NM_001406780.1:c.1468A>G
  • NM_001406781.1:c.1468A>G
  • NM_001406782.1:c.1468A>G
  • NM_001406783.1:c.1339A>G
  • NM_001406784.1:c.1375A>G
  • NM_001406785.1:c.1348A>G
  • NM_001406786.1:c.1339A>G
  • NM_001406787.1:c.1333A>G
  • NM_001406788.1:c.1180A>G
  • NM_001406789.1:c.1180A>G
  • NM_001406790.1:c.1180A>G
  • NM_001406791.1:c.1060A>G
  • NM_001406792.1:c.916A>G
  • NM_001406793.1:c.916A>G
  • NM_001406794.1:c.916A>G
  • NM_020629.2:c.2365A>G
  • NM_020630.7:c.2365A>G
  • NM_020975.6:c.2365A>GMANE SELECT
  • NP_000314.1:p.Lys789Glu
  • NP_001342145.1:p.Lys535Glu
  • NP_001342145.1:p.Lys535Glu
  • NP_001393672.1:p.Lys789Glu
  • NP_001393673.1:p.Lys789Glu
  • NP_001393688.1:p.Lys789Glu
  • NP_001393689.1:p.Lys789Glu
  • NP_001393690.1:p.Lys746Glu
  • NP_001393691.1:p.Lys746Glu
  • NP_001393692.1:p.Lys744Glu
  • NP_001393693.1:p.Lys746Glu
  • NP_001393694.1:p.Lys744Glu
  • NP_001393695.1:p.Lys693Glu
  • NP_001393696.1:p.Lys693Glu
  • NP_001393697.1:p.Lys701Glu
  • NP_001393698.1:p.Lys657Glu
  • NP_001393699.1:p.Lys693Glu
  • NP_001393700.1:p.Lys643Glu
  • NP_001393701.1:p.Lys657Glu
  • NP_001393702.1:p.Lys643Glu
  • NP_001393703.1:p.Lys614Glu
  • NP_001393704.1:p.Lys547Glu
  • NP_001393705.1:p.Lys547Glu
  • NP_001393706.1:p.Lys547Glu
  • NP_001393707.1:p.Lys547Glu
  • NP_001393708.1:p.Lys490Glu
  • NP_001393709.1:p.Lys490Glu
  • NP_001393710.1:p.Lys490Glu
  • NP_001393711.1:p.Lys490Glu
  • NP_001393712.1:p.Lys447Glu
  • NP_001393713.1:p.Lys459Glu
  • NP_001393714.1:p.Lys450Glu
  • NP_001393715.1:p.Lys447Glu
  • NP_001393716.1:p.Lys445Glu
  • NP_001393717.1:p.Lys394Glu
  • NP_001393718.1:p.Lys394Glu
  • NP_001393719.1:p.Lys394Glu
  • NP_001393720.1:p.Lys354Glu
  • NP_001393721.1:p.Lys306Glu
  • NP_001393722.1:p.Lys306Glu
  • NP_001393723.1:p.Lys306Glu
  • NP_065680.1:p.Lys789Glu
  • NP_065681.1:p.Lys789Glu
  • NP_065681.1:p.Lys789Glu
  • NP_065681.1:p.Lys789Glu
  • NP_066124.1:p.Lys789Glu
  • NP_066124.1:p.Lys789Glu
  • LRG_518t1:c.2365A>G
  • LRG_518t2:c.2365A>G
  • LRG_518:g.46385A>G
  • LRG_518p1:p.Lys789Glu
  • LRG_518p2:p.Lys789Glu
  • NC_000010.10:g.43613901A>G
  • NM_001355216.1:c.1603A>G
  • NM_020630.4:c.2365A>G
  • NM_020630.6:c.2365A>G
  • NM_020975.4:c.2365A>G
Protein change:
K306E
Links:
dbSNP: rs1352006130
NCBI 1000 Genomes Browser:
rs1352006130
Molecular consequence:
  • NM_000323.2:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355216.2:c.1603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.2236A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.2236A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.2230A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.2236A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.2230A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406766.1:c.2077A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406767.1:c.2077A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.1969A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406770.1:c.2077A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.1969A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.1840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406775.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406776.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406777.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406778.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.1468A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.1468A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.1468A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.1468A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406783.1:c.1339A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406784.1:c.1375A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406785.1:c.1348A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406786.1:c.1339A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406787.1:c.1333A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406788.1:c.1180A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406789.1:c.1180A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406790.1:c.1180A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406791.1:c.1060A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406792.1:c.916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406793.1:c.916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406794.1:c.916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]

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
    SCV004208665Baylor Genetics
    criteria provided, single submitter

    (ACMG Guidelines, 2015)    		Uncertain significance
    (Oct 10, 2023)     		unknownclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

    Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

    Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

    PubMed [citation]
    PMID:
    25741868
    PMCID:
    PMC4544753

    Details of each submission

    From Baylor Genetics, SCV004208665.1

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

    Last Updated: Sep 29, 2024