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NM_001326342.2(CELF2):c.1559C>T (p.Pro520Leu) AND Developmental and epileptic encephalopathy 97

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 2023
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:
RCV003222587.1

Allele description [Variation Report for NM_001326342.2(CELF2):c.1559C>T (p.Pro520Leu)]

NM_001326342.2(CELF2):c.1559C>T (p.Pro520Leu)

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.1559C>T (p.Pro520Leu)
HGVS:
  • NC_000010.11:g.11329046C>T
  • NM_001025076.2:c.1466C>T
  • NM_001025077.3:c.1520C>T
  • NM_001083591.1:c.1460C>T
  • NM_001326317.2:c.1448C>T
  • NM_001326318.2:c.1466C>T
  • NM_001326319.2:c.1520C>T
  • NM_001326320.2:c.1466C>T
  • NM_001326321.2:c.1490C>T
  • NM_001326323.2:c.1508C>T
  • NM_001326324.2:c.1466C>T
  • NM_001326325.2:c.1613C>T
  • NM_001326326.2:c.1556C>T
  • NM_001326327.2:c.1574C>T
  • NM_001326328.2:c.1466C>T
  • NM_001326329.2:c.1448C>T
  • NM_001326330.2:c.1466C>T
  • NM_001326331.2:c.1538C>T
  • NM_001326332.2:c.1520C>T
  • NM_001326333.2:c.854C>T
  • NM_001326334.2:c.1466C>T
  • NM_001326335.2:c.1532C>T
  • NM_001326336.2:c.1592C>T
  • NM_001326337.2:c.1352C>T
  • NM_001326338.2:c.1187C>T
  • NM_001326339.2:c.1205C>T
  • NM_001326340.2:c.1595C>T
  • NM_001326341.2:c.1541C>T
  • NM_001326342.2:c.1559C>TMANE SELECT
  • NM_001326343.2:c.1613C>T
  • NM_001326344.2:c.1448C>T
  • NM_001326345.2:c.1466C>T
  • NM_001326346.2:c.836C>T
  • NM_001326347.1:c.1484C>T
  • NM_001326348.2:c.1448C>T
  • NM_001326349.2:c.1466C>T
  • NM_001394502.1:c.1538C>T
  • NM_001394513.1:c.1541C>T
  • NM_001394517.1:c.1448C>T
  • NM_001394518.1:c.1553C>T
  • NM_001394519.1:c.1553C>T
  • NM_006561.4:c.1559C>T
  • NP_001020247.1:p.Pro489Leu
  • NP_001020248.1:p.Pro507Leu
  • NP_001077060.1:p.Pro487Leu
  • NP_001313246.1:p.Pro483Leu
  • NP_001313247.1:p.Pro489Leu
  • NP_001313248.1:p.Pro507Leu
  • NP_001313249.1:p.Pro489Leu
  • NP_001313250.1:p.Pro497Leu
  • NP_001313252.1:p.Pro503Leu
  • NP_001313253.1:p.Pro489Leu
  • NP_001313254.1:p.Pro538Leu
  • NP_001313255.1:p.Pro519Leu
  • NP_001313256.1:p.Pro525Leu
  • NP_001313257.1:p.Pro489Leu
  • NP_001313258.1:p.Pro483Leu
  • NP_001313259.1:p.Pro489Leu
  • NP_001313260.1:p.Pro513Leu
  • NP_001313261.1:p.Pro507Leu
  • NP_001313262.1:p.Pro285Leu
  • NP_001313263.1:p.Pro489Leu
  • NP_001313264.1:p.Pro511Leu
  • NP_001313265.1:p.Pro531Leu
  • NP_001313266.1:p.Pro451Leu
  • NP_001313267.1:p.Pro396Leu
  • NP_001313268.1:p.Pro402Leu
  • NP_001313269.1:p.Pro532Leu
  • NP_001313270.1:p.Pro514Leu
  • NP_001313271.1:p.Pro520Leu
  • NP_001313272.1:p.Pro538Leu
  • NP_001313273.1:p.Pro483Leu
  • NP_001313274.1:p.Pro489Leu
  • NP_001313275.1:p.Pro279Leu
  • NP_001313276.1:p.Pro495Leu
  • NP_001313277.1:p.Pro483Leu
  • NP_001313278.1:p.Pro489Leu
  • NP_001381431.1:p.Pro513Leu
  • NP_001381442.1:p.Pro514Leu
  • NP_001381446.1:p.Pro483Leu
  • NP_001381447.1:p.Pro518Leu
  • NP_001381448.1:p.Pro518Leu
  • NP_006552.3:p.Pro520Leu
  • NC_000010.10:g.11371009C>T
Protein change:
P279L
Molecular consequence:
  • NM_001025076.2:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001025077.3:c.1520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083591.1:c.1460C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326317.2:c.1448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326318.2:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326319.2:c.1520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326320.2:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326321.2:c.1490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326323.2:c.1508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326324.2:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326325.2:c.1613C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326326.2:c.1556C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326327.2:c.1574C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326328.2:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326329.2:c.1448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326330.2:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326331.2:c.1538C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326332.2:c.1520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326333.2:c.854C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326334.2:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326335.2:c.1532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326336.2:c.1592C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326337.2:c.1352C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326338.2:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326339.2:c.1205C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326340.2:c.1595C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326341.2:c.1541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326342.2:c.1559C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326343.2:c.1613C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326344.2:c.1448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326345.2:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326346.2:c.836C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326347.1:c.1484C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326348.2:c.1448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001326349.2:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394502.1:c.1538C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394513.1:c.1541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394517.1:c.1448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394518.1:c.1553C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394519.1:c.1553C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006561.4:c.1559C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Developmental and epileptic encephalopathy 97 (DEE97)
Identifiers:
MONDO: MONDO:0030453; MedGen: C5561999; OMIM: 619561

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003916023Gene Discovery Core-Manton Center, Boston Children's Hospital
no assertion criteria provided
Uncertain significance
(Mar 9, 2023) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Gene Discovery Core-Manton Center, Boston Children's Hospital, SCV003916023.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2023