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NM_001326342.2(CELF2):c.1475C>G (p.Ala492Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 24, 2024
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV004798338.1

Allele description [Variation Report for NM_001326342.2(CELF2):c.1475C>G (p.Ala492Gly)]

NM_001326342.2(CELF2):c.1475C>G (p.Ala492Gly)

Genes:
CELF2-AS1:CELF2 antisense RNA 1 [Gene - HGNC]
CELF2:CUGBP Elav-like family member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p14
Genomic location:
Preferred name:
NM_001326342.2(CELF2):c.1475C>G (p.Ala492Gly)
HGVS:
  • NC_000010.11:g.11328962C>G
  • NM_001025076.2:c.1382C>G
  • NM_001025077.3:c.1436C>G
  • NM_001083591.1:c.1376C>G
  • NM_001326317.2:c.1364C>G
  • NM_001326318.2:c.1382C>G
  • NM_001326319.2:c.1436C>G
  • NM_001326320.2:c.1382C>G
  • NM_001326321.2:c.1406C>G
  • NM_001326323.2:c.1424C>G
  • NM_001326324.2:c.1382C>G
  • NM_001326325.2:c.1529C>G
  • NM_001326326.2:c.1472C>G
  • NM_001326327.2:c.1490C>G
  • NM_001326328.2:c.1382C>G
  • NM_001326329.2:c.1364C>G
  • NM_001326330.2:c.1382C>G
  • NM_001326331.2:c.1454C>G
  • NM_001326332.2:c.1436C>G
  • NM_001326333.2:c.770C>G
  • NM_001326334.2:c.1382C>G
  • NM_001326335.2:c.1448C>G
  • NM_001326336.2:c.1508C>G
  • NM_001326337.2:c.1268C>G
  • NM_001326338.2:c.1103C>G
  • NM_001326339.2:c.1121C>G
  • NM_001326340.2:c.1511C>G
  • NM_001326341.2:c.1457C>G
  • NM_001326342.2:c.1475C>GMANE SELECT
  • NM_001326343.2:c.1529C>G
  • NM_001326344.2:c.1364C>G
  • NM_001326345.2:c.1382C>G
  • NM_001326346.2:c.752C>G
  • NM_001326347.1:c.1400C>G
  • NM_001326348.2:c.1364C>G
  • NM_001326349.2:c.1382C>G
  • NM_001394502.1:c.1454C>G
  • NM_001394513.1:c.1457C>G
  • NM_001394517.1:c.1364C>G
  • NM_001394518.1:c.1469C>G
  • NM_001394519.1:c.1469C>G
  • NM_006561.4:c.1475C>G
  • NP_001020247.1:p.Ala461Gly
  • NP_001020248.1:p.Ala479Gly
  • NP_001077060.1:p.Ala459Gly
  • NP_001313246.1:p.Ala455Gly
  • NP_001313247.1:p.Ala461Gly
  • NP_001313248.1:p.Ala479Gly
  • NP_001313249.1:p.Ala461Gly
  • NP_001313250.1:p.Ala469Gly
  • NP_001313252.1:p.Ala475Gly
  • NP_001313253.1:p.Ala461Gly
  • NP_001313254.1:p.Ala510Gly
  • NP_001313255.1:p.Ala491Gly
  • NP_001313256.1:p.Ala497Gly
  • NP_001313257.1:p.Ala461Gly
  • NP_001313258.1:p.Ala455Gly
  • NP_001313259.1:p.Ala461Gly
  • NP_001313260.1:p.Ala485Gly
  • NP_001313261.1:p.Ala479Gly
  • NP_001313262.1:p.Ala257Gly
  • NP_001313263.1:p.Ala461Gly
  • NP_001313264.1:p.Ala483Gly
  • NP_001313265.1:p.Ala503Gly
  • NP_001313266.1:p.Ala423Gly
  • NP_001313267.1:p.Ala368Gly
  • NP_001313268.1:p.Ala374Gly
  • NP_001313269.1:p.Ala504Gly
  • NP_001313270.1:p.Ala486Gly
  • NP_001313271.1:p.Ala492Gly
  • NP_001313272.1:p.Ala510Gly
  • NP_001313273.1:p.Ala455Gly
  • NP_001313274.1:p.Ala461Gly
  • NP_001313275.1:p.Ala251Gly
  • NP_001313276.1:p.Ala467Gly
  • NP_001313277.1:p.Ala455Gly
  • NP_001313278.1:p.Ala461Gly
  • NP_001381431.1:p.Ala485Gly
  • NP_001381442.1:p.Ala486Gly
  • NP_001381446.1:p.Ala455Gly
  • NP_001381447.1:p.Ala490Gly
  • NP_001381448.1:p.Ala490Gly
  • NP_006552.3:p.Ala492Gly
  • NC_000010.10:g.11370925C>G
  • NM_001025077.2:c.1436C>G
...more
Protein change:
A251G
Molecular consequence:
  • NM_001025076.2:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001025077.3:c.1436C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083591.1:c.1376C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326317.2:c.1364C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326318.2:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326319.2:c.1436C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326320.2:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326321.2:c.1406C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326323.2:c.1424C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326324.2:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326325.2:c.1529C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326326.2:c.1472C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326327.2:c.1490C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326328.2:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326329.2:c.1364C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326330.2:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326331.2:c.1454C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326332.2:c.1436C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326333.2:c.770C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326334.2:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326335.2:c.1448C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326336.2:c.1508C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326337.2:c.1268C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326338.2:c.1103C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326339.2:c.1121C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326340.2:c.1511C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326341.2:c.1457C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326342.2:c.1475C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326343.2:c.1529C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326344.2:c.1364C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326345.2:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326346.2:c.752C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326347.1:c.1400C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326348.2:c.1364C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326349.2:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394502.1:c.1454C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394513.1:c.1457C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394517.1:c.1364C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394518.1:c.1469C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394519.1:c.1469C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006561.4:c.1475C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005419740GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(May 24, 2024)
germlineclinical testing

Citation Link

Last Updated: Dec 7, 2024

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